Canonical Allele Identifier: CA401214788

Gene: BIRC5

Linked Data

• dbSNP Id: rs2071214
• gnomAD v4: 17-78223510-G-C
• MyVariant Identifiers: chr17:g.76219591G>C (hg19) ; chr17:g.78223510G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223510G>C , CM000679.2:g.78223510G>C	GRCh38
NC_000017.10:g.76219591G>C , CM000679.1:g.76219591G>C	GRCh37
NC_000017.9:g.73731186G>C	NCBI36
NG_029069.1:g.14315G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.385G>C MANE Select	ENSP00000324180.4:p.Glu129Gln
ENST00000301633.8:c.454G>C	ENSP00000301633.3:p.Glu152Gln
ENST00000350051.7:c.385G>C	ENSP00000324180.4:p.Glu129Gln
ENST00000374948.6:c.267G>C	ENSP00000364086.1:p.Arg89=
ENST00000589892.1:n.401G>C
ENST00000590925.6:c.*187G>C	ENSP00000467336.1:n.*187G>C
NM_001012270.1:c.267G>C	NP_001012270.1:p.Arg89=
NM_001012271.1:c.454G>C	NP_001012271.1:p.Glu152Gln
NM_001168.2:c.385G>C	NP_001159.2:p.Glu129Gln
XR_243654.3:n.587G>C
XR_934452.1:n.656G>C
XR_243654.5:n.587G>C
XR_934452.3:n.656G>C
NM_001168.3:c.385G>C MANE Select	NP_001159.2:p.Glu129Gln
NM_001012270.2:c.267G>C	NP_001012270.1:p.Arg89=
NM_001012271.2:c.454G>C	NP_001012271.1:p.Glu152Gln