Canonical Allele Identifier: CA401214684

Gene: BIRC5

Linked Data

• dbSNP Id: rs1408311951
• gnomAD v2: 17-76219581-G-A
• gnomAD v4: 17-78223500-G-A
• MyVariant Identifiers: chr17:g.76219581G>A (hg19) ; chr17:g.78223500G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223500G>A , CM000679.2:g.78223500G>A	GRCh38
NC_000017.10:g.76219581G>A , CM000679.1:g.76219581G>A	GRCh37
NC_000017.9:g.73731176G>A	NCBI36
NG_029069.1:g.14305G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.375G>A MANE Select	ENSP00000324180.4:p.Glu125=
ENST00000301633.8:c.444G>A	ENSP00000301633.3:p.Glu148=
ENST00000350051.7:c.375G>A	ENSP00000324180.4:p.Glu125=
ENST00000374948.6:c.257G>A	ENSP00000364086.1:p.Arg86Lys
ENST00000589892.1:n.391G>A
ENST00000590925.6:c.*177G>A	ENSP00000467336.1:n.*177G>A
NM_001012270.1:c.257G>A	NP_001012270.1:p.Arg86Lys
NM_001012271.1:c.444G>A	NP_001012271.1:p.Glu148=
NM_001168.2:c.375G>A	NP_001159.2:p.Glu125=
XR_243654.3:n.577G>A
XR_934452.1:n.646G>A
XR_243654.5:n.577G>A
XR_934452.3:n.646G>A
NM_001168.3:c.375G>A MANE Select	NP_001159.2:p.Glu125=
NM_001012270.2:c.257G>A	NP_001012270.1:p.Arg86Lys
NM_001012271.2:c.444G>A	NP_001012271.1:p.Glu148=