Gene
COL5A1
collagen type V alpha 1 chain
- HGNC 2209(opens in a new tab)
- Ensembl gene ENSG00000130635(opens in a new tab)
- NCBI Gene 1289(opens in a new tab)
Summary
- Cytogenetic location
- 9q34.3
- Coordinates
- Chromosome 9: 134,641,803–134,844,843 (GRCh38)
- Exons
- 66 exons across 203 kb
- Protein
- 1,838 amino acids
- MANE Select transcript
- ENST00000371817.8NM_000093.5
- 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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Ehlers-Danlos Syndrome
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
Trait report that reads COL5A1
Sports & Performance
- Tendon Injury Risk
How COL5A1 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 8.4 kb of the gene's 203 kb; 5,517 of those bases code for the protein.
How a genome test reads COL5A1
280
positions in COL5A1 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 203 kb of COL5A1, introns included, not only the 8.4 kb of exons.
Traits linked to COL5A1
The Human Phenotype Ontology lists these as features of the rare conditions COL5A1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the digestive system
- Acid reflux
- Chronic constipation
- Nausea
- Vomiting
- Incisional hernia
- Inguinal hernia
- Rectum protrudes through anus
- Stomach hernia
Show 2 more traits
Abnormality of limbs
- Dropped arches
- Abnormal feet structure
- Club feet
- Dislocated kneecap
- Dislocated radial head
- Hip dislocation
- Phalangeal dislocation
- Finger joint hyperextensibility
Show 1 more trait
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.
- 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
Dante Labs. (n.d.). COL5A1 gene: collagen type V alpha 1 chain. Retrieved 17 October 2026, from https://dantelabs.com/genes/col5a1
Dante Labs. COL5A1 gene: collagen type V alpha 1 chain [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/col5a1
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