Canonical Allele Identifier: CA1589270
Community Standard Title: NM_002709.3(PPP1CB):c.544A>G (p.Met182Val)
Gene: PPP1CB HGNC NCBI
SPDYA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.28783930A>G , CM000664.2:g.28783930A>G GRCh38
NC_000002.11:g.29006796A>G , CM000664.1:g.29006796A>G GRCh37
NC_000002.10:g.28860300A>G NCBI36
NG_052878.1:g.37183A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002709.3:c.544A>G (PPP1CB) MANE Select NP_002700.1:p.Met182Val
ENST00000395366.3:c.544A>G (PPP1CB) MANE Select ENSP00000378769.2:p.Met182Val
NM_002709.2:c.544A>G (PPP1CB) NP_002700.1:p.Met182Val
NM_206876.1:c.544A>G (PPP1CB) NP_996759.1:p.Met182Val
NM_206876.2:c.544A>G (PPP1CB) NP_996759.1:p.Met182Val
ENST00000296122.10:c.544A>G (PPP1CB) ENSP00000296122.6:p.Met182Val
ENST00000358506.6:c.544A>G (PPP1CB) ENSP00000351298.2:p.Met182Val
ENST00000395366.2:c.544A>G (PPP1CB) ENSP00000378769.2:p.Met182Val
ENST00000420282.6:c.544A>G (PPP1CB) ENSP00000398839.2:p.Met182Val
ENST00000427786.2:c.*504A>G (PPP1CB) ENSP00000394589.1:n.*504A>G
ENST00000441461.6:c.544A>G (PPP1CB) ENSP00000414918.2:p.Met182Val
ENST00000455580.5:c.460A>G (PPP1CB) ENSP00000390715.1:p.Met154Val
ENST00000455580.6:c.460A>G (PPP1CB) ENSP00000390715.2:p.Met154Val
ENST00000462832.5:n.371A>G (SPDYA)
ENST00000703171.1:c.*591A>G (PPP1CB) ENSP00000515217.1:n.*591A>G
ENST00000703172.1:c.460A>G (PPP1CB) ENSP00000515218.1:p.Met154Val
ENST00000703173.1:c.544A>G (PPP1CB) ENSP00000515219.1:p.Met182Val
ENST00000703174.1:c.667A>G (PPP1CB) ENSP00000515220.1:p.Met223Val
ENST00000703176.1:c.511A>G (PPP1CB) ENSP00000515221.1:p.Met171Val
ENST00000703177.1:c.*504A>G (PPP1CB) ENSP00000515222.1:n.*504A>G
ENST00000703183.1:n.427A>G (PPP1CB)