Canonical Allele Identifier: CA375444015

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134750835-G-A
• MyVariant Identifiers: chr9:g.137642681G>A (hg19) ; chr9:g.134750835G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750835G>A , CM000671.2:g.134750835G>A	GRCh38
NC_000009.11:g.137642681G>A , CM000671.1:g.137642681G>A	GRCh37
NC_000009.10:g.136782502G>A	NCBI36
NG_008030.1:g.114030G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1615G>A	ENSP00000360885.4:p.Val539Ile
ENST00000371817.8:c.1615G>A MANE Select	ENSP00000360882.3:p.Val539Ile
ENST00000371817.7:c.1615G>A	ENSP00000360882.3:p.Val539Ile
ENST00000618395.4:c.1615G>A	ENSP00000481360.1:p.Val539Ile
NM_000093.4:c.1615G>A	NP_000084.3:p.Val539Ile
NM_001278074.1:c.1615G>A	NP_001265003.1:p.Val539Ile
XR_929712.1:n.2017G>A
XR_929713.1:n.2017G>A
XM_017014266.2:c.1615G>A	XP_016869755.1:p.Val539Ile
XR_001746183.1:n.2013G>A
NM_000093.5:c.1615G>A MANE Select	NP_000084.3:p.Val539Ile