Canonical Allele Identifier: CA401214633

Gene: BIRC5

Linked Data

• MyVariant Identifiers: chr17:g.76219577T>G (hg19) ; chr17:g.78223496T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223496T>G , CM000679.2:g.78223496T>G	GRCh38
NC_000017.10:g.76219577T>G , CM000679.1:g.76219577T>G	GRCh37
NC_000017.9:g.73731172T>G	NCBI36
NG_029069.1:g.14301T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.371T>G MANE Select	ENSP00000324180.4:p.Phe124Cys
ENST00000301633.8:c.440T>G	ENSP00000301633.3:p.Phe147Cys
ENST00000350051.7:c.371T>G	ENSP00000324180.4:p.Phe124Cys
ENST00000374948.6:c.253T>G	ENSP00000364086.1:p.Leu85Val
ENST00000589892.1:n.387T>G
ENST00000590925.6:c.*173T>G	ENSP00000467336.1:n.*173T>G
NM_001012270.1:c.253T>G	NP_001012270.1:p.Leu85Val
NM_001012271.1:c.440T>G	NP_001012271.1:p.Phe147Cys
NM_001168.2:c.371T>G	NP_001159.2:p.Phe124Cys
XR_243654.3:n.573T>G
XR_934452.1:n.642T>G
XR_243654.5:n.573T>G
XR_934452.3:n.642T>G
NM_001168.3:c.371T>G MANE Select	NP_001159.2:p.Phe124Cys
NM_001012270.2:c.253T>G	NP_001012270.1:p.Leu85Val
NM_001012271.2:c.440T>G	NP_001012271.1:p.Phe147Cys