Canonical Allele Identifier: CA16043439

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 373924
• ClinVar RCV Id: RCV000414877 ; RCV000479910 ; RCV001199297 ; RCV003758762
• dbSNP Id: rs1057518771
• gnomAD v2: 9-137623973-G-A
• gnomAD v3: 9-134732127-G-A
• gnomAD v4: 9-134732127-G-A
• COSMIC: COSM274620
• MyVariant Identifiers: chr9:g.137623973G>A (hg19) ; chr9:g.134732127G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134732127G>A , CM000671.2:g.134732127G>A	GRCh38
NC_000009.11:g.137623973G>A , CM000671.1:g.137623973G>A	GRCh37
NC_000009.10:g.136763794G>A	NCBI36
NG_008030.1:g.95322G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1389G>A	ENSP00000360885.4:p.Pro463=
ENST00000371817.8:c.1389G>A MANE Select	ENSP00000360882.3:p.Pro463=
ENST00000371817.7:c.1389G>A	ENSP00000360882.3:p.Pro463=
ENST00000469093.1:n.128G>A
ENST00000618395.4:c.1389G>A	ENSP00000481360.1:p.Pro463=
NM_000093.4:c.1389G>A	NP_000084.3:p.Pro463=
NM_001278074.1:c.1389G>A	NP_001265003.1:p.Pro463=
XR_929712.1:n.1791G>A
XR_929713.1:n.1791G>A
XM_017014266.2:c.1389G>A	XP_016869755.1:p.Pro463=
XR_001746183.1:n.1787G>A
NM_000093.5:c.1389G>A MANE Select	NP_000084.3:p.Pro463=