Canonical Allele Identifier: CA401214662

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223498-G-T
• MyVariant Identifiers: chr17:g.76219579G>T (hg19) ; chr17:g.78223498G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223498G>T , CM000679.2:g.78223498G>T	GRCh38
NC_000017.10:g.76219579G>T , CM000679.1:g.76219579G>T	GRCh37
NC_000017.9:g.73731174G>T	NCBI36
NG_029069.1:g.14303G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.373G>T MANE Select	ENSP00000324180.4:p.Glu125Ter
ENST00000301633.8:c.442G>T	ENSP00000301633.3:p.Glu148Ter
ENST00000350051.7:c.373G>T	ENSP00000324180.4:p.Glu125Ter
ENST00000374948.6:c.255G>T	ENSP00000364086.1:p.Leu85Phe
ENST00000589892.1:n.389G>T
ENST00000590925.6:c.*175G>T	ENSP00000467336.1:n.*175G>T
NM_001012270.1:c.255G>T	NP_001012270.1:p.Leu85Phe
NM_001012271.1:c.442G>T	NP_001012271.1:p.Glu148Ter
NM_001168.2:c.373G>T	NP_001159.2:p.Glu125Ter
XR_243654.3:n.575G>T
XR_934452.1:n.644G>T
XR_243654.5:n.575G>T
XR_934452.3:n.644G>T
NM_001168.3:c.373G>T MANE Select	NP_001159.2:p.Glu125Ter
NM_001012270.2:c.255G>T	NP_001012270.1:p.Leu85Phe
NM_001012271.2:c.442G>T	NP_001012271.1:p.Glu148Ter