Canonical Allele Identifier: CA375451189

Gene: COL5A1

Linked Data

• MyVariant Identifiers: chr9:g.137623477A>C (hg19) ; chr9:g.134731631A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731631A>C , CM000671.2:g.134731631A>C	GRCh38
NC_000009.11:g.137623477A>C , CM000671.1:g.137623477A>C	GRCh37
NC_000009.10:g.136763298A>C	NCBI36
NG_008030.1:g.94826A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1300A>C	ENSP00000360885.4:p.Met434Leu
ENST00000371817.8:c.1300A>C MANE Select	ENSP00000360882.3:p.Met434Leu
ENST00000371817.7:c.1300A>C	ENSP00000360882.3:p.Met434Leu
ENST00000469093.1:n.39A>C
ENST00000618395.4:c.1300A>C	ENSP00000481360.1:p.Met434Leu
NM_000093.4:c.1300A>C	NP_000084.3:p.Met434Leu
NM_001278074.1:c.1300A>C	NP_001265003.1:p.Met434Leu
XR_929712.1:n.1702A>C
XR_929713.1:n.1702A>C
XM_017014266.2:c.1300A>C	XP_016869755.1:p.Met434Leu
XR_001746183.1:n.1698A>C
NM_000093.5:c.1300A>C MANE Select	NP_000084.3:p.Met434Leu