Canonical Allele Identifier: CA401214505

Gene: BIRC5

Linked Data

• MyVariant Identifiers: chr17:g.76219566G>T (hg19) ; chr17:g.78223485G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223485G>T , CM000679.2:g.78223485G>T	GRCh38
NC_000017.10:g.76219566G>T , CM000679.1:g.76219566G>T	GRCh37
NC_000017.9:g.73731161G>T	NCBI36
NG_029069.1:g.14290G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.360G>T MANE Select	ENSP00000324180.4:p.Lys120Asn
ENST00000301633.8:c.429G>T	ENSP00000301633.3:p.Lys143Asn
ENST00000350051.7:c.360G>T	ENSP00000324180.4:p.Lys120Asn
ENST00000374948.6:c.242G>T	ENSP00000364086.1:p.Arg81Ile
ENST00000589892.1:n.376G>T
ENST00000590925.6:c.*162G>T	ENSP00000467336.1:n.*162G>T
NM_001012270.1:c.242G>T	NP_001012270.1:p.Arg81Ile
NM_001012271.1:c.429G>T	NP_001012271.1:p.Lys143Asn
NM_001168.2:c.360G>T	NP_001159.2:p.Lys120Asn
XR_243654.3:n.562G>T
XR_934452.1:n.631G>T
XR_243654.5:n.562G>T
XR_934452.3:n.631G>T
NM_001168.3:c.360G>T MANE Select	NP_001159.2:p.Lys120Asn
NM_001012270.2:c.242G>T	NP_001012270.1:p.Arg81Ile
NM_001012271.2:c.429G>T	NP_001012271.1:p.Lys143Asn