Canonical Allele Identifier: CA467654964

Gene: COL5A1

Linked Data

• MyVariant Identifiers: chr9:g.137593041C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134701195C>G , CM000671.2:g.134701195C>G	GRCh38
NC_000009.11:g.137593041C>G , CM000671.1:g.137593041C>G	GRCh37
NC_000009.10:g.136732862C>G	NCBI36
NG_008030.1:g.64390C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.516C>G	ENSP00000360885.4:p.Val172=
ENST00000371817.8:c.516C>G MANE Select	ENSP00000360882.3:p.Val172=
ENST00000371817.7:c.516C>G	ENSP00000360882.3:p.Val172=
ENST00000464187.1:n.938C>G
ENST00000618395.4:c.516C>G	ENSP00000481360.1:p.Val172=
NM_000093.4:c.516C>G	NP_000084.3:p.Val172=
NM_001278074.1:c.516C>G	NP_001265003.1:p.Val172=
XR_929712.1:n.918C>G
XR_929713.1:n.918C>G
XM_017014266.2:c.516C>G	XP_016869755.1:p.Val172=
XR_001746183.1:n.914C>G
NM_000093.5:c.516C>G MANE Select	NP_000084.3:p.Val172=