Canonical Allele Identifier: CA401214805

Gene: BIRC5

Linked Data

• MyVariant Identifiers: chr17:g.76219593G>A (hg19) ; chr17:g.78223512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223512G>A , CM000679.2:g.78223512G>A	GRCh38
NC_000017.10:g.76219593G>A , CM000679.1:g.76219593G>A	GRCh37
NC_000017.9:g.73731188G>A	NCBI36
NG_029069.1:g.14317G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.387G>A MANE Select	ENSP00000324180.4:p.Glu129=
ENST00000301633.8:c.456G>A	ENSP00000301633.3:p.Glu152=
ENST00000350051.7:c.387G>A	ENSP00000324180.4:p.Glu129=
ENST00000374948.6:c.269G>A	ENSP00000364086.1:p.Arg90Lys
ENST00000589892.1:n.403G>A
ENST00000590925.6:c.*189G>A	ENSP00000467336.1:n.*189G>A
NM_001012270.1:c.269G>A	NP_001012270.1:p.Arg90Lys
NM_001012271.1:c.456G>A	NP_001012271.1:p.Glu152=
NM_001168.2:c.387G>A	NP_001159.2:p.Glu129=
XR_243654.3:n.589G>A
XR_934452.1:n.658G>A
XR_243654.5:n.589G>A
XR_934452.3:n.658G>A
NM_001168.3:c.387G>A MANE Select	NP_001159.2:p.Glu129=
NM_001012270.2:c.269G>A	NP_001012270.1:p.Arg90Lys
NM_001012271.2:c.456G>A	NP_001012271.1:p.Glu152=