Canonical Allele Identifier: CA401215623

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223613-C-A
• MyVariant Identifiers: chr17:g.76219694C>A (hg19) ; chr17:g.78223613C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223613C>A , CM000679.2:g.78223613C>A	GRCh38
NC_000017.10:g.76219694C>A , CM000679.1:g.76219694C>A	GRCh37
NC_000017.9:g.73731289C>A	NCBI36
NG_029069.1:g.14418C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000350051.8:c.*59C>A MANE Select	ENSP00000324180.4:n.*59C>A
ENST00000301633.8:c.*59C>A	ENSP00000301633.3:n.*59C>A
ENST00000350051.7:c.*59C>A	ENSP00000324180.4:n.*59C>A
ENST00000374948.6:c.370C>A	ENSP00000364086.1:p.Pro124Thr
ENST00000589892.1:n.504C>A
NM_001012270.1:c.370C>A	NP_001012270.1:p.Pro124Thr
NM_001012271.1:c.*59C>A	NP_001012271.1:n.*59C>A
NM_001168.2:c.*59C>A	NP_001159.2:n.*59C>A
XR_243654.3:n.690C>A
XR_934452.1:n.759C>A
XR_243654.5:n.690C>A
XR_934452.3:n.759C>A
NM_001168.3:c.*59C>A MANE Select	NP_001159.2:n.*59C>A
NM_001012270.2:c.370C>A	NP_001012270.1:p.Pro124Thr
NM_001012271.2:c.*59C>A	NP_001012271.1:n.*59C>A