Canonical Allele Identifier: CA8798653

Gene: BIRC5

Linked Data

• dbSNP Id: rs749753633
• ExAC: 17:76219693 C / A
• gnomAD v2: 17-76219693-C-A
• gnomAD v4: 17-78223612-C-A
• MyVariant Identifiers: chr17:g.76219693C>A (hg19) ; chr17:g.78223612C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223612C>A , CM000679.2:g.78223612C>A	GRCh38
NC_000017.10:g.76219693C>A , CM000679.1:g.76219693C>A	GRCh37
NC_000017.9:g.73731288C>A	NCBI36
NG_029069.1:g.14417C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000350051.8:c.*58C>A MANE Select	ENSP00000324180.4:n.*58C>A
ENST00000301633.8:c.*58C>A	ENSP00000301633.3:n.*58C>A
ENST00000350051.7:c.*58C>A	ENSP00000324180.4:n.*58C>A
ENST00000374948.6:c.369C>A	ENSP00000364086.1:p.Phe123Leu
ENST00000589892.1:n.503C>A
NM_001012270.1:c.369C>A	NP_001012270.1:p.Phe123Leu
NM_001012271.1:c.*58C>A	NP_001012271.1:n.*58C>A
NM_001168.2:c.*58C>A	NP_001159.2:n.*58C>A
XR_243654.3:n.689C>A
XR_934452.1:n.758C>A
XR_243654.5:n.689C>A
XR_934452.3:n.758C>A
NM_001168.3:c.*58C>A MANE Select	NP_001159.2:n.*58C>A
NM_001012270.2:c.369C>A	NP_001012270.1:p.Phe123Leu
NM_001012271.2:c.*58C>A	NP_001012271.1:n.*58C>A