Canonical Allele Identifier: CA401214395

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223476-C-A
• MyVariant Identifiers: chr17:g.76219557C>A (hg19) ; chr17:g.78223476C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223476C>A , CM000679.2:g.78223476C>A	GRCh38
NC_000017.10:g.76219557C>A , CM000679.1:g.76219557C>A	GRCh37
NC_000017.9:g.73731152C>A	NCBI36
NG_029069.1:g.14281C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.351C>A MANE Select	ENSP00000324180.4:p.Thr117=
ENST00000301633.8:c.420C>A	ENSP00000301633.3:p.Thr140=
ENST00000350051.7:c.351C>A	ENSP00000324180.4:p.Thr117=
ENST00000374948.6:c.233C>A	ENSP00000364086.1:p.Pro78Gln
ENST00000589892.1:n.367C>A
ENST00000590925.6:c.*153C>A	ENSP00000467336.1:n.*153C>A
NM_001012270.1:c.233C>A	NP_001012270.1:p.Pro78Gln
NM_001012271.1:c.420C>A	NP_001012271.1:p.Thr140=
NM_001168.2:c.351C>A	NP_001159.2:p.Thr117=
XR_243654.3:n.553C>A
XR_934452.1:n.622C>A
XR_243654.5:n.553C>A
XR_934452.3:n.622C>A
NM_001168.3:c.351C>A MANE Select	NP_001159.2:p.Thr117=
NM_001012270.2:c.233C>A	NP_001012270.1:p.Pro78Gln
NM_001012271.2:c.420C>A	NP_001012271.1:p.Thr140=