COL1A1
This page contains an overview of the genetic variation in the COL1A1 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
COL1A1 gene and transcript details
Gene Name
collagen, type I, alpha 1
Gene Links
Ensembl: ENSG00000108821 -
Locus Reference Genomic:
Genomic Location
Chromosome 17 : 48,262,863 - 48,278,874 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (4392 bases) | Protein (1464 aa) |
|---|---|---|
 |
ENST00000225964 | ENSP00000225964 |
 |
||
 |
NM_000088.3 | |
 |
P02452 |
Summary of COL1A1 in Cardiomyopathies
COL1A1 variants in ExAC
Details of the protein-altering COL1A1 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 537 | 0.00892 |
| Truncating | 4 | 0.00002 |
| Missense | 394 | 0.00628 |
| Inframe | 0 | 0.00000 |
| Splice Site | 139 | 0.00265 |