Canonical Allele Identifier: CA346581171
Gene: PPP1CB HGNC NCBI

Linked Data

ClinVar Variation Id: 427633
ClinVar RCV Id: RCV000490624
dbSNP Id: rs1114167429

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.28776964G>C , CM000664.2:g.28776964G>C GRCh38
NC_000002.11:g.28999830G>C , CM000664.1:g.28999830G>C GRCh37
NC_000002.10:g.28853334G>C NCBI36
NG_052878.1:g.30217G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000418910.2:c.166G>C ENSP00000388056.2:p.Ala56Pro
ENST00000420282.6:c.166G>C ENSP00000398839.2:p.Ala56Pro
ENST00000427786.2:c.82G>C ENSP00000394589.1:p.Ala28Pro
ENST00000441461.6:c.166G>C ENSP00000414918.2:p.Ala56Pro
ENST00000455580.6:c.82G>C ENSP00000390715.2:p.Ala28Pro
ENST00000703171.1:c.166G>C ENSP00000515217.1:p.Ala56Pro
ENST00000703172.1:c.82G>C ENSP00000515218.1:p.Ala28Pro
ENST00000703173.1:c.166G>C ENSP00000515219.1:p.Ala56Pro
ENST00000703174.1:c.166G>C ENSP00000515220.1:p.Ala56Pro
ENST00000703176.1:c.133G>C ENSP00000515221.1:p.Ala45Pro
ENST00000703177.1:c.82G>C ENSP00000515222.1:p.Ala28Pro
ENST00000395366.3:c.166G>C MANE Select ENSP00000378769.2:p.Ala56Pro
ENST00000296122.10:c.166G>C ENSP00000296122.6:p.Ala56Pro
ENST00000358506.6:c.166G>C ENSP00000351298.2:p.Ala56Pro
ENST00000395366.2:c.166G>C ENSP00000378769.2:p.Ala56Pro
ENST00000420282.5:c.166G>C ENSP00000398839.1:p.Ala56Pro
ENST00000427786.1:c.82G>C ENSP00000394589.1:p.Ala28Pro
ENST00000441461.5:c.166G>C ENSP00000414918.1:p.Ala56Pro
ENST00000455580.5:c.82G>C ENSP00000390715.1:p.Ala28Pro
ENST00000464273.1:n.280G>C
NM_002709.2:c.166G>C NP_002700.1:p.Ala56Pro
NM_206876.1:c.166G>C NP_996759.1:p.Ala56Pro
NM_002709.3:c.166G>C MANE Select NP_002700.1:p.Ala56Pro
NM_206876.2:c.166G>C NP_996759.1:p.Ala56Pro