Canonical Allele Identifier: CA401215033

Gene: BIRC5

Linked Data

• MyVariant Identifiers: chr17:g.76219620G>C (hg19) ; chr17:g.78223539G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223539G>C , CM000679.2:g.78223539G>C	GRCh38
NC_000017.10:g.76219620G>C , CM000679.1:g.76219620G>C	GRCh37
NC_000017.9:g.73731215G>C	NCBI36
NG_029069.1:g.14344G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.414G>C MANE Select	ENSP00000324180.4:p.Leu138=
ENST00000301633.8:c.483G>C	ENSP00000301633.3:p.Leu161=
ENST00000350051.7:c.414G>C	ENSP00000324180.4:p.Leu138=
ENST00000374948.6:c.296G>C	ENSP00000364086.1:p.Trp99Ser
ENST00000589892.1:n.430G>C
ENST00000590925.6:c.*216G>C	ENSP00000467336.1:n.*216G>C
NM_001012270.1:c.296G>C	NP_001012270.1:p.Trp99Ser
NM_001012271.1:c.483G>C	NP_001012271.1:p.Leu161=
NM_001168.2:c.414G>C	NP_001159.2:p.Leu138=
XR_243654.3:n.616G>C
XR_934452.1:n.685G>C
XR_243654.5:n.616G>C
XR_934452.3:n.685G>C
NM_001168.3:c.414G>C MANE Select	NP_001159.2:p.Leu138=
NM_001012270.2:c.296G>C	NP_001012270.1:p.Trp99Ser
NM_001012271.2:c.483G>C	NP_001012271.1:p.Leu161=