Canonical Allele Identifier: CA467666855

Gene: COL5A1

Linked Data

• MyVariant Identifiers: chr9:g.137726879G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835033G>A , CM000671.2:g.134835033G>A	GRCh38
NC_000009.11:g.137726879G>A , CM000671.1:g.137726879G>A	GRCh37
NC_000009.10:g.136866700G>A	NCBI36
NG_008030.1:g.198228G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5199G>A	ENSP00000360885.4:p.Leu1733=
ENST00000371817.8:c.5199G>A MANE Select	ENSP00000360882.3:p.Leu1733=
ENST00000371817.7:c.5199G>A	ENSP00000360882.3:p.Leu1733=
ENST00000371820.3:c.457G>A
ENST00000618395.4:c.5199G>A	ENSP00000481360.1:p.Leu1733=
NM_000093.4:c.5199G>A	NP_000084.3:p.Leu1733=
NM_001278074.1:c.5199G>A	NP_001265003.1:p.Leu1733=
NR_103451.2:n.71-14824C>T
XR_929712.1:n.5883G>A
XR_929713.1:n.5751G>A
NM_000093.5:c.5199G>A MANE Select	NP_000084.3:p.Leu1733=