Canonical Allele Identifier: CA401215565

Gene: BIRC5

Linked Data

• dbSNP Id: rs1225238355
• gnomAD v4: 17-78223605-G-T
• MyVariant Identifiers: chr17:g.76219686G>T (hg19) ; chr17:g.78223605G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223605G>T , CM000679.2:g.78223605G>T	GRCh38
NC_000017.10:g.76219686G>T , CM000679.1:g.76219686G>T	GRCh37
NC_000017.9:g.73731281G>T	NCBI36
NG_029069.1:g.14410G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000350051.8:c.*51G>T MANE Select	ENSP00000324180.4:n.*51G>T
ENST00000301633.8:c.*51G>T	ENSP00000301633.3:n.*51G>T
ENST00000350051.7:c.*51G>T	ENSP00000324180.4:n.*51G>T
ENST00000374948.6:c.362G>T	ENSP00000364086.1:p.Gly121Val
ENST00000589892.1:n.496G>T
NM_001012270.1:c.362G>T	NP_001012270.1:p.Gly121Val
NM_001012271.1:c.*51G>T	NP_001012271.1:n.*51G>T
NM_001168.2:c.*51G>T	NP_001159.2:n.*51G>T
XR_243654.3:n.682G>T
XR_934452.1:n.751G>T
XR_243654.5:n.682G>T
XR_934452.3:n.751G>T
NM_001168.3:c.*51G>T MANE Select	NP_001159.2:n.*51G>T
NM_001012270.2:c.362G>T	NP_001012270.1:p.Gly121Val
NM_001012271.2:c.*51G>T	NP_001012271.1:n.*51G>T