Canonical Allele Identifier: CA10586683

Gene: PPP1CB SPDYA

Linked Data

• ClinVar Variation Id: 254652
• ClinVar RCV Id: RCV000490621 ; RCV001731461 ; RCV004020993
• dbSNP Id: rs886037954
• MyVariant Identifiers: chr2:g.29006800A>C (hg19) ; chr2:g.28783934A>C (hg38)
• PubMed: PMID:27479843 ; PMID:27681385

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.28783934A>C , CM000664.2:g.28783934A>C	GRCh38
NC_000002.11:g.29006800A>C , CM000664.1:g.29006800A>C	GRCh37
NC_000002.10:g.28860304A>C	NCBI36
NG_052878.1:g.37187A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420282.6:c.548A>C (PPP1CB)	ENSP00000398839.2:p.Glu183Ala
ENST00000427786.2:c.*508A>C (PPP1CB)	ENSP00000394589.1:n.*508A>C
ENST00000441461.6:c.548A>C (PPP1CB)	ENSP00000414918.2:p.Glu183Ala
ENST00000455580.6:c.464A>C (PPP1CB)	ENSP00000390715.2:p.Glu155Ala
ENST00000703171.1:c.*595A>C (PPP1CB)	ENSP00000515217.1:n.*595A>C
ENST00000703172.1:c.464A>C (PPP1CB)	ENSP00000515218.1:p.Glu155Ala
ENST00000703173.1:c.548A>C (PPP1CB)	ENSP00000515219.1:p.Glu183Ala
ENST00000703174.1:c.671A>C (PPP1CB)	ENSP00000515220.1:p.Glu224Ala
ENST00000703176.1:c.515A>C (PPP1CB)	ENSP00000515221.1:p.Glu172Ala
ENST00000703177.1:c.*508A>C (PPP1CB)	ENSP00000515222.1:n.*508A>C
ENST00000703183.1:n.431A>C (PPP1CB)
ENST00000395366.3:c.548A>C (PPP1CB) MANE Select	ENSP00000378769.2:p.Glu183Ala
ENST00000296122.10:c.548A>C (PPP1CB)	ENSP00000296122.6:p.Glu183Ala
ENST00000358506.6:c.548A>C (PPP1CB)	ENSP00000351298.2:p.Glu183Ala
ENST00000395366.2:c.548A>C (PPP1CB)	ENSP00000378769.2:p.Glu183Ala
ENST00000455580.5:c.464A>C (PPP1CB)	ENSP00000390715.1:p.Glu155Ala
ENST00000462832.5:n.375A>C (SPDYA)
NM_002709.2:c.548A>C (PPP1CB)	NP_002700.1:p.Glu183Ala
NM_206876.1:c.548A>C (PPP1CB)	NP_996759.1:p.Glu183Ala
NM_002709.3:c.548A>C (PPP1CB) MANE Select	NP_002700.1:p.Glu183Ala
NM_206876.2:c.548A>C (PPP1CB)	NP_996759.1:p.Glu183Ala