Canonical Allele Identifier: CA375458030

Gene: COL5A1

Linked Data

• MyVariant Identifiers: chr9:g.137713980G>A (hg19) ; chr9:g.134822134G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822134G>A , CM000671.2:g.134822134G>A	GRCh38
NC_000009.11:g.137713980G>A , CM000671.1:g.137713980G>A	GRCh37
NC_000009.10:g.136853801G>A	NCBI36
NG_008030.1:g.185329G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4592G>A	ENSP00000360885.4:p.Gly1531Glu
ENST00000371817.8:c.4592G>A MANE Select	ENSP00000360882.3:p.Gly1531Glu
ENST00000371817.7:c.4592G>A	ENSP00000360882.3:p.Gly1531Glu
ENST00000618395.4:c.4592G>A	ENSP00000481360.1:p.Gly1531Glu
NM_000093.4:c.4592G>A	NP_000084.3:p.Gly1531Glu
NM_001278074.1:c.4592G>A	NP_001265003.1:p.Gly1531Glu
NR_103451.2:n.71-1925C>T
XR_929712.1:n.4994G>A
XR_929713.1:n.4994G>A
XM_017014266.2:c.4592G>A	XP_016869755.1:p.Gly1531Glu
XR_001746183.1:n.4990G>A
NM_000093.5:c.4592G>A MANE Select	NP_000084.3:p.Gly1531Glu