Canonical Allele Identifier: CA1589350
Community Standard Title: NM_002709.3(PPP1CB):c.969G>A (p.Pro323=)
Gene: PPP1CB HGNC NCBI
SPDYA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.28799288G>A , CM000664.2:g.28799288G>A GRCh38
NC_000002.11:g.29022154G>A , CM000664.1:g.29022154G>A GRCh37
NC_000002.10:g.28875658G>A NCBI36
NG_052878.1:g.52541G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002709.3:c.969G>A (PPP1CB) MANE Select NP_002700.1:p.Pro323=
ENST00000395366.3:c.969G>A (PPP1CB) MANE Select ENSP00000378769.2:p.Pro323=
NM_002709.2:c.969G>A (PPP1CB) NP_002700.1:p.Pro323=
NM_206876.1:c.969G>A (PPP1CB) NP_996759.1:p.Pro323=
NM_206876.2:c.969G>A (PPP1CB) NP_996759.1:p.Pro323=
ENST00000296122.10:c.969G>A (PPP1CB) ENSP00000296122.6:p.Pro323=
ENST00000358506.6:c.969G>A (PPP1CB) ENSP00000351298.2:p.Pro323=
ENST00000395366.2:c.969G>A (PPP1CB) ENSP00000378769.2:p.Pro323=
ENST00000420282.6:c.969G>A (PPP1CB) ENSP00000398839.2:p.Pro323=
ENST00000427786.2:c.*929G>A (PPP1CB) ENSP00000394589.1:n.*929G>A
ENST00000441461.6:c.969G>A (PPP1CB) ENSP00000414918.2:p.Pro323=
ENST00000455580.6:c.885G>A (PPP1CB) ENSP00000390715.2:p.Pro295=
ENST00000462832.5:n.796G>A (SPDYA)
ENST00000703171.1:c.*1016G>A (PPP1CB) ENSP00000515217.1:n.*1016G>A
ENST00000703172.1:c.885G>A (PPP1CB) ENSP00000515218.1:p.Pro295=
ENST00000703173.1:c.969G>A (PPP1CB) ENSP00000515219.1:p.Pro323=
ENST00000703174.1:c.1092G>A (PPP1CB) ENSP00000515220.1:p.Pro364=
ENST00000703176.1:c.936G>A (PPP1CB) ENSP00000515221.1:p.Pro312=
ENST00000703177.1:c.*929G>A (PPP1CB) ENSP00000515222.1:n.*929G>A
ENST00000703183.1:n.852G>A (PPP1CB)