Canonical Allele Identifier: CA401214974

Gene: BIRC5

Linked Data

• ClinVar Variation Id: 2221943
• ClinVar RCV Id: RCV004084040
• dbSNP Id: rs2076529060
• gnomAD v3: 17-78223531-G-A
• gnomAD v4: 17-78223531-G-A
• MyVariant Identifiers: chr17:g.76219612G>A (hg19) ; chr17:g.78223531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223531G>A , CM000679.2:g.78223531G>A	GRCh38
NC_000017.10:g.76219612G>A , CM000679.1:g.76219612G>A	GRCh37
NC_000017.9:g.73731207G>A	NCBI36
NG_029069.1:g.14336G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.406G>A MANE Select	ENSP00000324180.4:p.Glu136Lys
ENST00000301633.8:c.475G>A	ENSP00000301633.3:p.Glu159Lys
ENST00000350051.7:c.406G>A	ENSP00000324180.4:p.Glu136Lys
ENST00000374948.6:c.288G>A	ENSP00000364086.1:p.Ser96=
ENST00000589892.1:n.422G>A
ENST00000590925.6:c.*208G>A	ENSP00000467336.1:n.*208G>A
NM_001012270.1:c.288G>A	NP_001012270.1:p.Ser96=
NM_001012271.1:c.475G>A	NP_001012271.1:p.Glu159Lys
NM_001168.2:c.406G>A	NP_001159.2:p.Glu136Lys
XR_243654.3:n.608G>A
XR_934452.1:n.677G>A
XR_243654.5:n.608G>A
XR_934452.3:n.677G>A
NM_001168.3:c.406G>A MANE Select	NP_001159.2:p.Glu136Lys
NM_001012270.2:c.288G>A	NP_001012270.1:p.Ser96=
NM_001012271.2:c.475G>A	NP_001012271.1:p.Glu159Lys