Canonical Allele Identifier: CA401215571

Gene: BIRC5

Linked Data

• dbSNP Id: rs1225238355
• gnomAD v2: 17-76219686-G-A
• gnomAD v4: 17-78223605-G-A
• MyVariant Identifiers: chr17:g.76219686G>A (hg19) ; chr17:g.78223605G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223605G>A , CM000679.2:g.78223605G>A	GRCh38
NC_000017.10:g.76219686G>A , CM000679.1:g.76219686G>A	GRCh37
NC_000017.9:g.73731281G>A	NCBI36
NG_029069.1:g.14410G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*51G>A MANE Select	ENSP00000324180.4:n.*51G>A
ENST00000301633.8:c.*51G>A	ENSP00000301633.3:n.*51G>A
ENST00000350051.7:c.*51G>A	ENSP00000324180.4:n.*51G>A
ENST00000374948.6:c.362G>A	ENSP00000364086.1:p.Gly121Asp
ENST00000589892.1:n.496G>A
NM_001012270.1:c.362G>A	NP_001012270.1:p.Gly121Asp
NM_001012271.1:c.*51G>A	NP_001012271.1:n.*51G>A
NM_001168.2:c.*51G>A	NP_001159.2:n.*51G>A
XR_243654.3:n.682G>A
XR_934452.1:n.751G>A
XR_243654.5:n.682G>A
XR_934452.3:n.751G>A
NM_001168.3:c.*51G>A MANE Select	NP_001159.2:n.*51G>A
NM_001012270.2:c.362G>A	NP_001012270.1:p.Gly121Asp
NM_001012271.2:c.*51G>A	NP_001012271.1:n.*51G>A