Canonical Allele Identifier: CA401215068

Gene: BIRC5

Linked Data

• MyVariant Identifiers: chr17:g.76219624G>A (hg19) ; chr17:g.78223543G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223543G>A , CM000679.2:g.78223543G>A	GRCh38
NC_000017.10:g.76219624G>A , CM000679.1:g.76219624G>A	GRCh37
NC_000017.9:g.73731219G>A	NCBI36
NG_029069.1:g.14348G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.418G>A MANE Select	ENSP00000324180.4:p.Ala140Thr
ENST00000301633.8:c.487G>A	ENSP00000301633.3:p.Ala163Thr
ENST00000350051.7:c.418G>A	ENSP00000324180.4:p.Ala140Thr
ENST00000374948.6:c.300G>A	ENSP00000364086.1:p.Leu100=
ENST00000589892.1:n.434G>A
ENST00000590925.6:c.*220G>A	ENSP00000467336.1:n.*220G>A
NM_001012270.1:c.300G>A	NP_001012270.1:p.Leu100=
NM_001012271.1:c.487G>A	NP_001012271.1:p.Ala163Thr
NM_001168.2:c.418G>A	NP_001159.2:p.Ala140Thr
XR_243654.3:n.620G>A
XR_934452.1:n.689G>A
XR_243654.5:n.620G>A
XR_934452.3:n.689G>A
NM_001168.3:c.418G>A MANE Select	NP_001159.2:p.Ala140Thr
NM_001012270.2:c.300G>A	NP_001012270.1:p.Leu100=
NM_001012271.2:c.487G>A	NP_001012271.1:p.Ala163Thr