Canonical Allele Identifier: CA401215020

Gene: BIRC5

Linked Data

• MyVariant Identifiers: chr17:g.76219619T>A (hg19) ; chr17:g.78223538T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223538T>A , CM000679.2:g.78223538T>A	GRCh38
NC_000017.10:g.76219619T>A , CM000679.1:g.76219619T>A	GRCh37
NC_000017.9:g.73731214T>A	NCBI36
NG_029069.1:g.14343T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.413T>A MANE Select	ENSP00000324180.4:p.Leu138Gln
ENST00000301633.8:c.482T>A	ENSP00000301633.3:p.Leu161Gln
ENST00000350051.7:c.413T>A	ENSP00000324180.4:p.Leu138Gln
ENST00000374948.6:c.295T>A	ENSP00000364086.1:p.Trp99Arg
ENST00000589892.1:n.429T>A
ENST00000590925.6:c.*215T>A	ENSP00000467336.1:n.*215T>A
NM_001012270.1:c.295T>A	NP_001012270.1:p.Trp99Arg
NM_001012271.1:c.482T>A	NP_001012271.1:p.Leu161Gln
NM_001168.2:c.413T>A	NP_001159.2:p.Leu138Gln
XR_243654.3:n.615T>A
XR_934452.1:n.684T>A
XR_243654.5:n.615T>A
XR_934452.3:n.684T>A
NM_001168.3:c.413T>A MANE Select	NP_001159.2:p.Leu138Gln
NM_001012270.2:c.295T>A	NP_001012270.1:p.Trp99Arg
NM_001012271.2:c.482T>A	NP_001012271.1:p.Leu161Gln