Canonical Allele Identifier: CA375443891

Gene: COL5A1

Linked Data

• MyVariant Identifiers: chr9:g.137642644T>G (hg19) ; chr9:g.134750798T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750798T>G , CM000671.2:g.134750798T>G	GRCh38
NC_000009.11:g.137642644T>G , CM000671.1:g.137642644T>G	GRCh37
NC_000009.10:g.136782465T>G	NCBI36
NG_008030.1:g.113993T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1578T>G	ENSP00000360885.4:p.Phe526Leu
ENST00000371817.8:c.1578T>G MANE Select	ENSP00000360882.3:p.Phe526Leu
ENST00000371817.7:c.1578T>G	ENSP00000360882.3:p.Phe526Leu
ENST00000618395.4:c.1578T>G	ENSP00000481360.1:p.Phe526Leu
NM_000093.4:c.1578T>G	NP_000084.3:p.Phe526Leu
NM_001278074.1:c.1578T>G	NP_001265003.1:p.Phe526Leu
XR_929712.1:n.1980T>G
XR_929713.1:n.1980T>G
XM_017014266.2:c.1578T>G	XP_016869755.1:p.Phe526Leu
XR_001746183.1:n.1976T>G
NM_000093.5:c.1578T>G MANE Select	NP_000084.3:p.Phe526Leu