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Gene

RYR1

ryanodine receptor 1

Summary

Cytogenetic location
19q13.2
Coordinates
Chromosome 19: 38,433,691–38,587,564 (GRCh38)
Exons
106 exons across 153.9 kb
Protein
5,038 amino acids
Inheritance
Autosomal dominant
Also known as
RYR, PPP1R137
Previous symbols
MHS, MHS1, CCO
MANE Select transcript
ENST00000359596.8NM_000540.3
Locus type
gene with protein product

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Congenital Myopathies

    • RYR1-related myopathy

      Muscle disorders caused by RYR1 variants, including central core and multi-minicore disease, ranging from mild weakness to severe congenital myopathy.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      People with RYR1 variants may be at risk of malignant hyperthermia, so their anesthetist should be told before any surgery.

  • Malignant Hyperthermia Susceptibility

    • Autosomal dominant

      An inherited muscle condition, mainly caused by changes in RYR1 or CACNA1S, in which volatile anaesthetic gases or suxamethonium can trigger a rapid rise in body temperature, muscle rigidity and muscle breakdown.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
      What knowing changes

      Telling the anaesthetist allows non-triggering anaesthesia to be used, which largely prevents reactions; relatives may also be at risk.

  • Myofibrillar Myopathies

    • Myofibrillar myopathy

      A group of muscle disorders in which the contractile structure of muscle fibers breaks down, caused by genes such as DES, CRYAB, MYOT, LDB3, FLNC and BAG3.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Because the heart is often involved, regular heart checks (such as ECG and echocardiography) are recommended even without symptoms.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How RYR1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 19, with a bracket where RYR1 sits. RYR1 and 33 genes near it on chromosome 19, from 38,010,628 to 39,010,627.Chromosome 1919q13.2p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4338.2 Mb38.4 Mb38.6 Mb38.8 Mb39 MbSIPA1L3: 37,907,200–38,208,369, forward strandSIPA1L3DPF1: 38,211,006–38,229,729, reverse strandDPF1SPINT2: 38,244,035–38,292,615, forward strandSPINT2PPP1R14A: 38,250,856–38,256,615, reverse strand: 38,289,151–38,304,910, forward strandYIF1B: 38,303,558–38,317,273, reverse strandYIF1BC19orf33: 38,304,158–38,305,011, forward strandC19orf33KCNK6: 38,319,813–38,333,553, forward strandKCNK6CATSPERG: 38,335,775–38,370,943, forward strandPSMD8: 38,374,563–38,383,850, forward strandGGN: 38,384,267–38,388,274, reverse strandGGNSPRED3: 38,388,421–38,399,588, forward strandSPRED3TSLIG3C: 38,403,093–38,409,088, forward strandTSLIG3CRASGRP4: 38,409,051–38,426,305, reverse strandRASGRP4RYR1: 38,433,691–38,587,564, forward strandRYR1MAP4K1: 38,587,641–38,619,161, reverse strandMAP4K1EIF3K: 38,619,055–38,636,959, forward strandEIF3KACTN4: 38,647,515–38,731,589, forward strandACTN4CAPN12: 38,730,187–38,769,904, reverse strandCAPN12LGALS7: 38,770,968–38,773,542, reverse strandLGALS7LGALS7B: 38,789,191–38,791,754, forward strandLGALS7BLGALS4: 38,801,671–38,813,070, reverse strandLGALS4ECH1: 38,815,415–38,831,874, reverse strandECH1: 38,817,471–38,840,178, reverse strandHNRNPL: 38,836,370–38,852,347, reverse strandRINL: 38,867,830–38,878,275, reverse strandRINLSIRT2: 38,878,555–38,900,501, reverse strandSIRT2NFKBIB: 38,899,700–38,908,893, forward strandNFKBIBCCER2: 38,908,980–38,912,252, reverse strandCCER2SARS2: 38,915,265–38,930,779, reverse strandSARS2: 38,915,404–38,949,855, reverse strandMRPS12: 38,930,917–38,937,406, forward strandFBXO17: 38,941,401–38,976,773, reverse strandFBXO27: 38,990,714–39,033,773, reverse strandFBXO27Diagram of RYR1: 106 exons on the forward strand of chromosome 19Exon 1: 1 known disease-causing siteExon 2: 5 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 8: 5 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 10: 4 known disease-causing sitesExon 11: 5 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 13: 6 known disease-causing sitesExon 14: 2 known disease-causing sitesExon 15: 7 known disease-causing sitesExon 16: 1 known disease-causing siteExon 17: 3 known disease-causing sitesExon 18: 5 known disease-causing sitesExon 19: 3 known disease-causing sitesExon 20: 4 known disease-causing sitesExon 21: 4 known disease-causing sitesExon 23: 3 known disease-causing sitesExon 24: 4 known disease-causing sitesExon 25: 6 known disease-causing sitesExon 26: 4 known disease-causing sitesExon 27: 1 known disease-causing siteExon 28: 4 known disease-causing sitesExon 29: 1 known disease-causing siteExon 30: 3 known disease-causing sitesExon 31: 1 known disease-causing siteExon 32: 1 known disease-causing siteExon 33: 3 known disease-causing sitesExon 34: 3 known disease-causing sitesExon 35: 2 known disease-causing sitesExon 36: 4 known disease-causing sitesExon 39: 11 known disease-causing sitesExon 40: 5 known disease-causing sitesExon 41: 3 known disease-causing sitesExon 42: 5 known disease-causing sitesExon 43: 2 known disease-causing sitesExon 44: 13 known disease-causing sitesExon 45: 8 known disease-causing sitesExon 46: 8 known disease-causing sitesExon 47: 3 known disease-causing sitesExon 48: 4 known disease-causing sitesExon 49: 3 known disease-causing sitesExon 50: 4 known disease-causing sitesExon 51: 4 known disease-causing sitesExon 53: 3 known disease-causing sitesExon 54: 2 known disease-causing sitesExon 55: 1 known disease-causing siteExon 57: 1 known disease-causing siteExon 58: 3 known disease-causing sitesExon 59: 1 known disease-causing siteExon 61: 1 known disease-causing siteExon 63: 2 known disease-causing sitesExon 65: 4 known disease-causing sitesExon 66: 6 known disease-causing sitesExon 67: 3 known disease-causing sitesExon 68: 1 known disease-causing siteExon 70: 2 known disease-causing sitesExon 71: 1 known disease-causing siteExon 72: 1 known disease-causing siteExon 73: 1 known disease-causing siteExon 74: 2 known disease-causing sitesExon 75: 1 known disease-causing siteExon 79: 1 known disease-causing siteExon 82: 1 known disease-causing siteExon 84: 1 known disease-causing siteExon 85: 2 known disease-causing sitesExon 87: 6 known disease-causing sitesExon 88: 2 known disease-causing sitesExon 89: 1 known disease-causing siteExon 90: 5 known disease-causing sitesExon 91: 8 known disease-causing sitesExon 93: 2 known disease-causing sitesExon 94: 3 known disease-causing sitesExon 95: 5 known disease-causing sitesExon 98: 4 known disease-causing sitesExon 99: 2 known disease-causing sitesExon 100: 12 known disease-causing sitesExon 101: 14 known disease-causing sitesExon 102: 18 known disease-causing sitesExon 103: 3 known disease-causing sitesExon 104: 3 known disease-causing sitesExon 105: 2 known disease-causing sitesExon 106: 3 known disease-causing sitesExon 1: 38,433,691–38,433,874, 184 bases. 1 variant with a page in exon 1. List themExon 2: 38,440,745–38,440,864, 120 bases. 3 variants with a page in exon 2. List themExon 3: 38,442,349–38,442,453, 105 bases. 1 variant with a page in exon 3. List themExon 4: 38,443,558–38,443,632, 75 bases. 1 variant with a page in exon 4. List themExon 5: 38,443,718–38,443,796, 79 basesExon 6: 38,444,149–38,444,261, 113 bases. 6 variants with a page in exon 6. List themExon 7: 38,444,584–38,444,677, 94 basesExon 8: 38,446,472–38,446,565, 94 basesExon 9: 38,446,694–38,446,768, 75 bases. 2 variants with a page in exon 9. List themExon 10: 38,448,355–38,448,511, 157 basesExon 11: 38,448,649–38,448,813, 165 bases. 4 variants with a page in exon 11. List themExon 12: 38,451,764–38,451,885, 122 bases. 3 variants with a page in exon 12. List themExon 13: 38,452,819–38,453,014, 196 bases. 2 variants with a page in exon 13. List themExon 14: 38,455,235–38,455,370, 136 bases. 2 variants with a page in exon 14. List themExon 15: 38,455,451–38,455,546, 96 bases. 7 variants with a page in exon 15. List themExon 16: 38,455,633–38,455,751, 119 basesExon 17: 38,457,497–38,457,630, 134 bases. 3 variants with a page in exon 17. List themExon 18: 38,458,051–38,458,292, 242 basesExon 19: 38,459,146–38,459,338, 193 basesExon 20: 38,460,375–38,460,591, 217 bases. 2 variants with a page in exon 20. List themExon 21: 38,463,423–38,463,527, 105 basesExon 22: 38,463,747–38,463,850, 104 basesExon 23: 38,464,639–38,464,722, 84 basesExon 24: 38,466,091–38,466,398, 308 bases. 2 variants with a page in exon 24. List themExon 25: 38,467,610–38,467,812, 203 basesExon 26: 38,468,966–38,469,140, 175 bases. 1 variant with a page in exon 26. List themExon 27: 38,469,305–38,469,513, 209 basesExon 28: 38,473,377–38,473,771, 395 basesExon 29: 38,475,318–38,475,450, 133 bases. 1 variant with a page in exon 29. List themExon 30: 38,477,710–38,477,870, 161 basesExon 31: 38,478,435–38,478,600, 166 basesExon 32: 38,483,027–38,483,113, 87 basesExon 33: 38,483,290–38,483,516, 227 bases. 1 variant with a page in exon 33. List themExon 34: 38,485,590–38,486,202, 613 bases. 3 variants with a page in exon 34. List themExon 35: 38,489,177–38,489,443, 267 basesExon 36: 38,490,076–38,490,276, 201 basesExon 37: 38,490,621–38,490,732, 112 basesExon 38: 38,492,490–38,492,636, 147 basesExon 39: 38,494,352–38,494,625, 274 bases. 7 variants with a page in exon 39. List themExon 40: 38,496,215–38,496,329, 115 bases. 3 variants with a page in exon 40. List themExon 41: 38,496,409–38,496,541, 133 bases. 2 variants with a page in exon 41. List themExon 42: 38,496,860–38,496,954, 95 bases. 2 variants with a page in exon 42. List themExon 43: 38,499,108–38,499,243, 136 bases. 2 variants with a page in exon 43. List themExon 44: 38,499,635–38,499,821, 187 bases. 11 variants with a page in exon 44. List themExon 45: 38,499,908–38,500,016, 109 bases. 9 variants with a page in exon 45. List themExon 46: 38,500,606–38,500,726, 121 bases. 6 variants with a page in exon 46. List themExon 47: 38,500,821–38,500,990, 170 bases. 3 variants with a page in exon 47. List themExon 48: 38,502,507–38,502,727, 221 basesExon 49: 38,502,880–38,502,970, 91 bases. 1 variant with a page in exon 49. List themExon 50: 38,504,220–38,504,360, 141 bases. 1 variant with a page in exon 50. List themExon 51: 38,504,748–38,504,911, 164 bases. 3 variants with a page in exon 51. List themExon 52: 38,505,003–38,505,081, 79 basesExon 53: 38,505,309–38,505,398, 90 bases. 1 variant with a page in exon 53. List themExon 54: 38,505,806–38,505,946, 141 basesExon 55: 38,506,303–38,506,377, 75 basesExon 56: 38,506,471–38,506,546, 76 basesExon 57: 38,506,829–38,506,952, 124 basesExon 58: 38,507,712–38,507,827, 116 bases. 1 variant with a page in exon 58. List themExon 59: 38,510,498–38,510,565, 68 basesExon 60: 38,510,660–38,510,781, 122 basesExon 61: 38,511,561–38,511,610, 50 basesExon 62: 38,512,072–38,512,132, 61 basesExon 63: 38,512,245–38,512,483, 239 bases. 1 variant with a page in exon 63. List themExon 64: 38,515,026–38,515,107, 82 basesExon 65: 38,516,087–38,516,217, 131 basesExon 66: 38,517,359–38,517,691, 333 bases. 1 variant with a page in exon 66. List themExon 67: 38,519,214–38,519,454, 241 bases. 2 variants with a page in exon 67. List themExon 68: 38,523,028–38,523,115, 88 basesExon 69: 38,523,217–38,523,309, 93 basesExon 70: 38,523,915–38,523,929, 15 basesExon 71: 38,525,332–38,525,502, 171 basesExon 72: 38,526,993–38,527,052, 60 bases. 1 variant with a page in exon 72. List themExon 73: 38,527,647–38,527,784, 138 basesExon 74: 38,528,306–38,528,418, 113 basesExon 75: 38,528,599–38,528,695, 97 basesExon 76: 38,528,951–38,529,057, 107 basesExon 77: 38,532,490–38,532,541, 52 basesExon 78: 38,532,671–38,532,736, 66 basesExon 79: 38,534,720–38,534,819, 100 bases. 1 variant with a page in exon 79. List themExon 80: 38,535,141–38,535,220, 80 basesExon 81: 38,535,316–38,535,392, 77 basesExon 82: 38,535,997–38,536,070, 74 basesExon 83: 38,536,750–38,536,767, 18 basesExon 84: 38,537,880–38,537,960, 81 basesExon 85: 38,543,347–38,543,435, 89 bases. 2 variants with a page in exon 85. List themExon 86: 38,543,532–38,543,660, 129 basesExon 87: 38,543,771–38,543,875, 105 bases. 2 variants with a page in exon 87. List themExon 88: 38,546,445–38,546,526, 82 bases. 1 variant with a page in exon 88. List themExon 89: 38,548,233–38,548,420, 188 bases. 1 variant with a page in exon 89. List themExon 90: 38,561,113–38,561,454, 342 bases. 1 variant with a page in exon 90. List themExon 91: 38,564,959–38,565,771, 813 bases. 3 variants with a page in exon 91. List themExon 92: 38,566,911–38,566,987, 77 basesExon 93: 38,567,773–38,567,917, 145 bases. 1 variant with a page in exon 93. List themExon 94: 38,570,607–38,570,693, 87 basesExon 95: 38,572,019–38,572,270, 252 bases. 1 variant with a page in exon 95. List themExon 96: 38,573,177–38,573,307, 131 basesExon 97: 38,575,919–38,575,961, 43 basesExon 98: 38,577,918–38,578,048, 131 bases. 2 variants with a page in exon 98. List themExon 99: 38,578,144–38,578,204, 61 basesExon 100: 38,579,982–38,580,128, 147 bases. 2 variants with a page in exon 100. List themExon 101: 38,580,370–38,580,504, 135 bases. 5 variants with a page in exon 101. List themExon 102: 38,584,943–38,585,099, 157 bases. 4 variants with a page in exon 102. List themExon 103: 38,585,938–38,586,002, 65 bases. 1 variant with a page in exon 103. List themExon 104: 38,586,091–38,586,191, 101 bases. 2 variants with a page in exon 104. List themExon 105: 38,586,525–38,586,576, 52 bases. 1 variant with a page in exon 105. List themExon 106: 38,587,325–38,587,564, 240 bases11020304050607080901001065′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 15.4 kb of the gene's 153.9 kb; 15,117 of those bases code for the protein.

How a genome test reads RYR1

359

positions in RYR1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 153.9 kb of RYR1, introns included, not only the 15.4 kb of exons.

Variants with a page (141)

The RYR1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
A152Dc.455C>AExon 638,444,179Likely pathogenic3 stars out of 4 reviewed by expert panel
A2200Vc.6599C>TExon 4038,496,265Likely pathogenic3 stars out of 4 reviewed by expert panel
A2350Tc.7048G>AExon 4438,499,655Pathogenic3 stars out of 4 reviewed by expert panel
A2428Tc.7282G>AExon 4538,499,975Likely pathogenic3 stars out of 4 reviewed by expert panel
A2437Vc.7310C>TExon 4538,500,003Likely pathogenic3 stars out of 4 reviewed by expert panel
A4338Gfs*238c.13013_13032delExon 9138,565,341Pathogenic3 stars out of 4 reviewed by expert panel
c.742G>CExon 938,446,710Pathogenic3 stars out of 4 reviewed by expert panel
c.958-2_958delIntron 1038,448,646Likely pathogenic3 stars out of 4 reviewed by expert panel
c.1021G>CExon 1138,448,712Pathogenic3 stars out of 4 reviewed by expert panel
c.1925+1G>CIntron 1738,457,631Likely pathogenic3 stars out of 4 reviewed by expert panel

See all 141 RYR1 variants →

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). RYR1 gene: ryanodine receptor 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/ryr1

Vancouver

Dante Labs. RYR1 gene: ryanodine receptor 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ryr1

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