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Gene

COL13A1

collagen type XIII alpha 1 chain

Summary

Cytogenetic location
10q22.1
Coordinates
Chromosome 10: 69,801,906–69,959,144 (GRCh38)
Exons
41 exons across 157.2 kb
Protein
728 amino acids
MANE Select transcript
ENST00000645393.2NM_001368882.1
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

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

Curated report relevant to this gene

  • Congenital Myasthenic Syndrome

    • Congenital Myasthenic Syndrome (All Types)

      Umbrella term covering all congenital myasthenic syndromes, including the common CHRNE, RAPSN, DOK7 and MUSK forms.

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

      Many forms respond to specific medications such as pyridostigmine, salbutamol or ephedrine, and the right choice depends on the gene involved.

How COL13A1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where COL13A1 sits. COL13A1 and 12 genes near it on chromosome 10, from 69,380,525 to 70,380,524.Chromosome 1010q22.1p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.369.4 Mb69.6 Mb69.8 Mb70 Mb70.2 MbHK1: 69,269,984–69,403,497, forward strandHK1TACR2: 69,402,885–69,416,923, reverse strandTACR2TSPAN15: 69,451,150–69,507,676, forward strandTSPAN15NEUROG3: 69,571,485–69,573,511, reverse strandNEUROG3FAM241B: 69,630,228–69,633,614, forward strandFAM241BCOL13A1: 69,801,906–69,959,144, forward strandCOL13A1MACROH2A2: 70,052,544–70,112,282, forward strandMACROH2A2AIFM2: 70,054,661–70,133,269, reverse strandAIFM2TYSND1: 70,137,978–70,146,720, reverse strandTYSND1SAR1A: 70,147,289–70,186,284, reverse strandSAR1APPA1: 70,202,831–70,233,911, reverse strandPPA1NPFFR1: 70,247,329–70,284,011, reverse strandNPFFR1LRRC20: 70,298,970–70,382,650, reverse strandLRRC20Diagram of COL13A1: 41 exons on the forward strand of chromosome 10Exon 6: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 14: 1 known disease-causing siteExon 15: 2 known disease-causing sitesExon 22: 1 known disease-causing siteExon 26: 1 known disease-causing siteExon 30: 1 known disease-causing siteExon 1: 69,801,906–69,802,717, 812 basesExon 2: 69,822,369–69,822,438, 70 basesExon 3: 69,867,798–69,867,805, 8 basesExon 4: 69,872,184–69,872,210, 27 basesExon 5: 69,875,128–69,875,163, 36 basesExon 6: 69,878,039–69,878,065, 27 basesExon 7: 69,880,503–69,880,553, 51 basesExon 8: 69,887,456–69,887,491, 36 basesExon 9: 69,888,304–69,888,330, 27 basesExon 10: 69,889,414–69,889,440, 27 basesExon 11: 69,894,552–69,894,578, 27 basesExon 12: 69,894,675–69,894,701, 27 basesExon 13: 69,895,550–69,895,576, 27 basesExon 14: 69,898,697–69,898,762, 66 basesExon 15: 69,902,748–69,902,855, 108 basesExon 16: 69,904,933–69,904,959, 27 basesExon 17: 69,905,787–69,905,822, 36 basesExon 18: 69,917,289–69,917,333, 45 basesExon 19: 69,918,285–69,918,317, 33 basesExon 20: 69,919,062–69,919,088, 27 basesExon 21: 69,919,665–69,919,727, 63 basesExon 22: 69,921,882–69,921,935, 54 basesExon 23: 69,922,708–69,922,794, 87 basesExon 24: 69,923,802–69,923,855, 54 basesExon 25: 69,924,963–69,925,007, 45 basesExon 26: 69,925,804–69,925,872, 69 basesExon 27: 69,927,087–69,927,110, 24 basesExon 28: 69,928,937–69,928,999, 63 basesExon 29: 69,930,043–69,930,087, 45 basesExon 30: 69,930,400–69,930,552, 153 basesExon 31: 69,932,560–69,932,604, 45 basesExon 32: 69,935,350–69,935,391, 42 basesExon 33: 69,936,756–69,936,782, 27 basesExon 34: 69,937,635–69,937,715, 81 basesExon 35: 69,940,988–69,941,023, 36 basesExon 36: 69,944,125–69,944,178, 54 basesExon 37: 69,945,671–69,945,724, 54 basesExon 38: 69,947,307–69,947,342, 36 basesExon 39: 69,952,882–69,952,968, 87 basesExon 40: 69,957,004–69,957,042, 39 basesExon 41: 69,958,699–69,959,144, 446 bases125415′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 3.1 kb of the gene's 157.2 kb; 2,187 of those bases code for the protein.

How a genome test reads COL13A1

18

positions in COL13A1 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 157.2 kb of COL13A1, introns included, not only the 3.1 kb of exons.

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.). COL13A1 gene: collagen type XIII alpha 1 chain. Retrieved 17 October 2026, from https://dantelabs.com/genes/col13a1

Vancouver

Dante Labs. COL13A1 gene: collagen type XIII alpha 1 chain [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/col13a1

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