Canonical Allele Identifier: CA2697552041

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 2710741
• ClinVar RCV Id: RCV003595108

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731485T>C , CM000671.2:g.134731485T>C	GRCh38
NC_000009.11:g.137623331T>C , CM000671.1:g.137623331T>C	GRCh37
NC_000009.10:g.136763152T>C	NCBI36
NG_008030.1:g.94680T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1165-11T>C	ENSP00000360885.4:n.1165-11T>C
ENST00000371817.8:c.1165-11T>C MANE Select	ENSP00000360882.3:n.1165-11T>C
ENST00000371817.7:c.1165-11T>C	ENSP00000360882.3:n.1165-11T>C
ENST00000618395.4:c.1165-11T>C	ENSP00000481360.1:n.1165-11T>C
NM_000093.4:c.1165-11T>C	NP_000084.3:n.1165-11T>C
NM_001278074.1:c.1165-11T>C	NP_001265003.1:n.1165-11T>C
XR_929712.1:n.1567-11T>C
XR_929713.1:n.1567-11T>C
XM_017014266.2:c.1165-11T>C	XP_016869755.1:n.1165-11T>C
XR_001746183.1:n.1563-11T>C
NM_000093.5:c.1165-11T>C MANE Select	NP_000084.3:n.1165-11T>C