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Gene

COL6A1

collagen type VI alpha 1 chain

Summary

Cytogenetic location
21q22.3
Coordinates
Chromosome 21: 45,981,770–46,005,048 (GRCh38)
Exons
35 exons across 23.3 kb
Protein
1,028 amino acids
MANE Select transcript
ENST00000361866.8NM_001848.3
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 reports relevant to this gene

  • Congenital Muscular Dystrophies

    • Collagen VI-related myopathy

      A spectrum of muscle disorders caused by COL6A1, COL6A2 or COL6A3 variants, ranging from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy, with weakness and joint contractures.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
    • Congenital muscular dystrophy

      A group of muscular dystrophies with onset at birth or in infancy, including dystroglycanopathies (such as FKRP, FKTN and POMT1/2-related forms).

      • 3 GenCC submitters rate it definitive or strong

  • Limb-Girdle Muscular Dystrophy

    • Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.

      • 3 GenCC submitters rate it definitive or strong

How COL6A1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 21, with a bracket where COL6A1 sits. COL6A1 and 13 genes near it on chromosome 21, from 45,493,409 to 46,493,408.Chromosome 2121q22.3p13p12p11.2p11.1q11.1q11.2q21.1q21.2q21.3q22.11q22.12q22.13q22.2q22.345.6 Mb45.8 Mb46 Mb46.2 Mb46.4 MbCOL18A1: 45,405,118–45,513,721, forward strandCOL18A1SLC19A1: 45,493,572–45,573,564, reverse strandSLC19A1PCBP3: 45,643,661–45,942,454, forward strandPCBP3COL6A1: 45,981,770–46,005,048, forward strandCOL6A1COL6A2: 46,096,722–46,132,851, forward strandCOL6A2FTCD: 46,136,082–46,156,047, reverse strandFTCDSPATC1L: 46,161,148–46,184,476, reverse strandSPATC1LLSS: 46,187,299–46,228,840, reverse strandLSSMCM3AP: 46,232,689–46,286,617, reverse strandMCM3APYBEY: 46,285,831–46,313,301, forward strandYBEYC21orf58: 46,291,929–46,324,470, reverse strandC21orf58PCNT: 46,324,082–46,445,769, forward strandPCNT: 46,326,288–46,326,491, forward strandDIP2A: 46,458,841–46,572,746, forward strandDIP2ADiagram of COL6A1: 35 exons on the forward strand of chromosome 21Exon 1: 5 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 9: 12 known disease-causing sitesExon 10: 11 known disease-causing sitesExon 11: 7 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 13: 1 known disease-causing siteExon 14: 5 known disease-causing sitesExon 15: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 19: 2 known disease-causing sitesExon 21: 2 known disease-causing sitesExon 22: 2 known disease-causing sitesExon 24: 1 known disease-causing siteExon 25: 2 known disease-causing sitesExon 26: 3 known disease-causing sitesExon 28: 3 known disease-causing sitesExon 30: 3 known disease-causing sitesExon 32: 2 known disease-causing sitesExon 33: 3 known disease-causing sitesExon 34: 1 known disease-causing siteExon 35: 1 known disease-causing siteExon 1: 45,981,770–45,981,947, 178 basesExon 2: 45,982,634–45,982,763, 130 basesExon 3: 45,984,269–45,984,469, 201 basesExon 4: 45,986,526–45,986,685, 160 basesExon 5: 45,986,944–45,987,072, 129 basesExon 6: 45,987,155–45,987,175, 21 basesExon 7: 45,987,499–45,987,519, 21 basesExon 8: 45,987,610–45,987,654, 45 basesExon 9: 45,989,084–45,989,137, 54 basesExon 10: 45,989,608–45,989,652, 45 basesExon 11: 45,989,752–45,989,778, 27 basesExon 12: 45,990,258–45,990,284, 27 basesExon 13: 45,990,378–45,990,422, 45 basesExon 14: 45,990,773–45,990,826, 54 basesExon 15: 45,990,979–45,991,041, 63 basesExon 16: 45,992,010–45,992,072, 63 basesExon 17: 45,992,164–45,992,217, 54 basesExon 18: 45,992,363–45,992,398, 36 basesExon 19: 45,992,748–45,992,810, 63 basesExon 20: 45,994,167–45,994,229, 63 basesExon 21: 45,997,421–45,997,483, 63 basesExon 22: 45,997,700–45,997,762, 63 basesExon 23: 45,998,121–45,998,171, 51 basesExon 24: 45,998,398–45,998,433, 36 basesExon 25: 45,998,897–45,998,959, 63 basesExon 26: 45,999,153–45,999,218, 66 basesExon 27: 45,999,657–45,999,692, 36 basesExon 28: 46,000,331–46,000,367, 37 basesExon 29: 46,000,759–46,000,767, 9 basesExon 30: 46,001,253–46,001,386, 134 basesExon 31: 46,001,961–46,002,070, 110 basesExon 32: 46,002,218–46,002,401, 184 basesExon 33: 46,002,527–46,002,710, 184 basesExon 34: 46,003,120–46,003,149, 30 basesExon 35: 46,003,391–46,005,048, 1,658 bases151015202530355′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 4.2 kb of the gene's 23.3 kb; 3,087 of those bases code for the protein.

How a genome test reads COL6A1

138

positions in COL6A1 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 23.3 kb of COL6A1, introns included, not only the 4.2 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.). COL6A1 gene: collagen type VI alpha 1 chain. Retrieved 17 October 2026, from https://dantelabs.com/genes/col6a1

Vancouver

Dante Labs. COL6A1 gene: collagen type VI alpha 1 chain [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/col6a1

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