Canonical Allele Identifier: CA8798632
Gene: BIRC5 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.78223510G>A
GRCh37 chr17:g.76219591G>A
Revel Score:
ENST00000301633 0.013
ENST00000350051 (MANE Select) 0.013
gnomAD v2:
17:76219591 G / A
gnomAD v3:
17:78223510 G / A
gnomAD v4:
chr17-78223510-G-A
Joint Max Group AF 0.98364323 (AFR)
Genomes Max Group AF 0.98038313 (AFR)
Exomes Max Group AF 0.98219048 (AFR)
dbSNP:
2071214
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000350051.8:c.385G>A MANE Select ENSP00000324180.4:p.Glu129Lys
ENST00000301633.8:c.454G>A ENSP00000301633.3:p.Glu152Lys
ENST00000350051.7:c.385G>A ENSP00000324180.4:p.Glu129Lys
ENST00000374948.6:c.267G>A ENSP00000364086.1:p.Arg89=
ENST00000589892.1:n.401G>A
ENST00000590925.6:c.*187G>A ENSP00000467336.1:n.*187G>A
NM_001012270.1:c.267G>A NP_001012270.1:p.Arg89=
NM_001012271.1:c.454G>A NP_001012271.1:p.Glu152Lys
NM_001168.2:c.385G>A NP_001159.2:p.Glu129Lys
XR_243654.3:n.587G>A
XR_934452.1:n.656G>A
XR_243654.5:n.587G>A
XR_934452.3:n.656G>A
NM_001168.3:c.385G>A MANE Select NP_001159.2:p.Glu129Lys
NM_001012270.2:c.267G>A NP_001012270.1:p.Arg89=
NM_001012271.2:c.454G>A NP_001012271.1:p.Glu152Lys
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