Canonical Allele Identifier: CA346582423
Community Standard Title: NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys)
Gene: PPP1CB HGNC NCBI
SPDYA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.28783931T>A , CM000664.2:g.28783931T>A GRCh38
NC_000002.11:g.29006797T>A , CM000664.1:g.29006797T>A GRCh37
NC_000002.10:g.28860301T>A NCBI36
NG_052878.1:g.37184T>A

Transcript Alleles

HGVS Amino-acid Change
NM_002709.3:c.545T>A (PPP1CB) MANE Select NP_002700.1:p.Met182Lys
ENST00000395366.3:c.545T>A (PPP1CB) MANE Select ENSP00000378769.2:p.Met182Lys
NM_002709.2:c.545T>A (PPP1CB) NP_002700.1:p.Met182Lys
NM_206876.1:c.545T>A (PPP1CB) NP_996759.1:p.Met182Lys
NM_206876.2:c.545T>A (PPP1CB) NP_996759.1:p.Met182Lys
ENST00000296122.10:c.545T>A (PPP1CB) ENSP00000296122.6:p.Met182Lys
ENST00000358506.6:c.545T>A (PPP1CB) ENSP00000351298.2:p.Met182Lys
ENST00000395366.2:c.545T>A (PPP1CB) ENSP00000378769.2:p.Met182Lys
ENST00000420282.6:c.545T>A (PPP1CB) ENSP00000398839.2:p.Met182Lys
ENST00000427786.2:c.*505T>A (PPP1CB) ENSP00000394589.1:n.*505T>A
ENST00000441461.6:c.545T>A (PPP1CB) ENSP00000414918.2:p.Met182Lys
ENST00000455580.5:c.461T>A (PPP1CB) ENSP00000390715.1:p.Met154Lys
ENST00000455580.6:c.461T>A (PPP1CB) ENSP00000390715.2:p.Met154Lys
ENST00000462832.5:n.372T>A (SPDYA)
ENST00000703171.1:c.*592T>A (PPP1CB) ENSP00000515217.1:n.*592T>A
ENST00000703172.1:c.461T>A (PPP1CB) ENSP00000515218.1:p.Met154Lys
ENST00000703173.1:c.545T>A (PPP1CB) ENSP00000515219.1:p.Met182Lys
ENST00000703174.1:c.668T>A (PPP1CB) ENSP00000515220.1:p.Met223Lys
ENST00000703176.1:c.512T>A (PPP1CB) ENSP00000515221.1:p.Met171Lys
ENST00000703177.1:c.*505T>A (PPP1CB) ENSP00000515222.1:n.*505T>A
ENST00000703183.1:n.428T>A (PPP1CB)