Canonical Allele Identifier: CA401215048

Gene: BIRC5

Linked Data

• MyVariant Identifiers: chr17:g.76219622C>T (hg19) ; chr17:g.78223541C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223541C>T , CM000679.2:g.78223541C>T	GRCh38
NC_000017.10:g.76219622C>T , CM000679.1:g.76219622C>T	GRCh37
NC_000017.9:g.73731217C>T	NCBI36
NG_029069.1:g.14346C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.416C>T MANE Select	ENSP00000324180.4:p.Ala139Val
ENST00000301633.8:c.485C>T	ENSP00000301633.3:p.Ala162Val
ENST00000350051.7:c.416C>T	ENSP00000324180.4:p.Ala139Val
ENST00000374948.6:c.298C>T	ENSP00000364086.1:p.Leu100=
ENST00000589892.1:n.432C>T
ENST00000590925.6:c.*218C>T	ENSP00000467336.1:n.*218C>T
NM_001012270.1:c.298C>T	NP_001012270.1:p.Leu100=
NM_001012271.1:c.485C>T	NP_001012271.1:p.Ala162Val
NM_001168.2:c.416C>T	NP_001159.2:p.Ala139Val
XR_243654.3:n.618C>T
XR_934452.1:n.687C>T
XR_243654.5:n.618C>T
XR_934452.3:n.687C>T
NM_001168.3:c.416C>T MANE Select	NP_001159.2:p.Ala139Val
NM_001012270.2:c.298C>T	NP_001012270.1:p.Leu100=
NM_001012271.2:c.485C>T	NP_001012271.1:p.Ala162Val