Canonical Allele Identifier: CA401214363

Gene: BIRC5

Linked Data

• MyVariant Identifiers: chr17:g.76219551G>A (hg19) ; chr17:g.78223470G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223470G>A , CM000679.2:g.78223470G>A	GRCh38
NC_000017.10:g.76219551G>A , CM000679.1:g.76219551G>A	GRCh37
NC_000017.9:g.73731146G>A	NCBI36
NG_029069.1:g.14275G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.345G>A MANE Select	ENSP00000324180.4:p.Lys115=
ENST00000301633.8:c.414G>A	ENSP00000301633.3:p.Lys138=
ENST00000350051.7:c.345G>A	ENSP00000324180.4:p.Lys115=
ENST00000374948.6:c.227G>A	ENSP00000364086.1:p.Arg76Lys
ENST00000589892.1:n.361G>A
ENST00000590925.6:c.*147G>A	ENSP00000467336.1:n.*147G>A
NM_001012270.1:c.227G>A	NP_001012270.1:p.Arg76Lys
NM_001012271.1:c.414G>A	NP_001012271.1:p.Lys138=
NM_001168.2:c.345G>A	NP_001159.2:p.Lys115=
XR_243654.3:n.547G>A
XR_934452.1:n.616G>A
XR_243654.5:n.547G>A
XR_934452.3:n.616G>A
NM_001168.3:c.345G>A MANE Select	NP_001159.2:p.Lys115=
NM_001012270.2:c.227G>A	NP_001012270.1:p.Arg76Lys
NM_001012271.2:c.414G>A	NP_001012271.1:p.Lys138=