Gene
COL27A1
collagen type XXVII alpha 1 chain
- HGNC 22986↗(opens in a new tab)
- Ensembl gene ENSG00000196739↗(opens in a new tab)
- NCBI Gene 85301↗(opens in a new tab)
Summary
- Cytogenetic location
- 9q32
- Coordinates
- Chromosome 9: 114,155,537–114,312,511 (GRCh38)
- Exons
- 61 exons across 157 kb
- Protein
- 1,860 amino acids
- Also known as
- KIAA1870, MGC11337, FLJ11895
- MANE Select transcript
- ENST00000356083.8NM_032888.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads COL27A1 yet. The test sequences your whole genome, so your data includes it all the same.
How COL27A1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 7.8 kb of the gene's 157 kb; 5,583 of those bases code for the protein.
How a genome test reads COL27A1
36
positions in COL27A1 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 kb of COL27A1, introns included, not only the 7.8 kb of exons.
Traits linked to COL27A1
The Human Phenotype Ontology lists these as features of the rare conditions COL27A1 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
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.
- 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
Dante Labs. (n.d.). COL27A1 gene: collagen type XXVII alpha 1 chain. Retrieved 17 October 2026, from https://dantelabs.com/genes/col27a1
Dante Labs. COL27A1 gene: collagen type XXVII alpha 1 chain [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/col27a1
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