Canonical Allele Identifier: CA401214845
Gene: BIRC5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78223516G>A , CM000679.2:g.78223516G>A GRCh38
NC_000017.10:g.76219597G>A , CM000679.1:g.76219597G>A GRCh37
NC_000017.9:g.73731192G>A NCBI36
NG_029069.1:g.14321G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000350051.8:c.391G>A MANE Select ENSP00000324180.4:p.Val131Met
ENST00000301633.8:c.460G>A ENSP00000301633.3:p.Val154Met
ENST00000350051.7:c.391G>A ENSP00000324180.4:p.Val131Met
ENST00000374948.6:c.273G>A ENSP00000364086.1:p.Lys91=
ENST00000589892.1:n.407G>A
ENST00000590925.6:c.*193G>A ENSP00000467336.1:n.*193G>A
NM_001012270.1:c.273G>A NP_001012270.1:p.Lys91=
NM_001012271.1:c.460G>A NP_001012271.1:p.Val154Met
NM_001168.2:c.391G>A NP_001159.2:p.Val131Met
XR_243654.3:n.593G>A
XR_934452.1:n.662G>A
XR_243654.5:n.593G>A
XR_934452.3:n.662G>A
NM_001168.3:c.391G>A MANE Select NP_001159.2:p.Val131Met
NM_001012270.2:c.273G>A NP_001012270.1:p.Lys91=
NM_001012271.2:c.460G>A NP_001012271.1:p.Val154Met