Canonical Allele Identifier: CA401215062

Gene: BIRC5

Linked Data

• MyVariant Identifiers: chr17:g.76219623T>C (hg19) ; chr17:g.78223542T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223542T>C , CM000679.2:g.78223542T>C	GRCh38
NC_000017.10:g.76219623T>C , CM000679.1:g.76219623T>C	GRCh37
NC_000017.9:g.73731218T>C	NCBI36
NG_029069.1:g.14347T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.417T>C MANE Select	ENSP00000324180.4:p.Ala139=
ENST00000301633.8:c.486T>C	ENSP00000301633.3:p.Ala162=
ENST00000350051.7:c.417T>C	ENSP00000324180.4:p.Ala139=
ENST00000374948.6:c.299T>C	ENSP00000364086.1:p.Leu100Pro
ENST00000589892.1:n.433T>C
ENST00000590925.6:c.*219T>C	ENSP00000467336.1:n.*219T>C
NM_001012270.1:c.299T>C	NP_001012270.1:p.Leu100Pro
NM_001012271.1:c.486T>C	NP_001012271.1:p.Ala162=
NM_001168.2:c.417T>C	NP_001159.2:p.Ala139=
XR_243654.3:n.619T>C
XR_934452.1:n.688T>C
XR_243654.5:n.619T>C
XR_934452.3:n.688T>C
NM_001168.3:c.417T>C MANE Select	NP_001159.2:p.Ala139=
NM_001012270.2:c.299T>C	NP_001012270.1:p.Leu100Pro
NM_001012271.2:c.486T>C	NP_001012271.1:p.Ala162=