Canonical Allele Identifier: CA1589174
Gene: PPP1CB HGNC NCBI

Linked Data

ClinVar Variation Id: 2790829
ClinVar RCV Id: RCV003672101
dbSNP Id: rs749740559
gnomAD v2: 2-28999868-T-A
gnomAD v4: 2-28777002-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.28777002T>A , CM000664.2:g.28777002T>A GRCh38
NC_000002.11:g.28999868T>A , CM000664.1:g.28999868T>A GRCh37
NC_000002.10:g.28853372T>A NCBI36
NG_052878.1:g.30255T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000418910.2:c.184+20T>A ENSP00000388056.2:n.184+20T>A
ENST00000420282.6:c.184+20T>A ENSP00000398839.2:n.184+20T>A
ENST00000427786.2:c.100+20T>A ENSP00000394589.1:n.100+20T>A
ENST00000441461.6:c.184+20T>A ENSP00000414918.2:n.184+20T>A
ENST00000455580.6:c.100+20T>A ENSP00000390715.2:n.100+20T>A
ENST00000703171.1:c.184+20T>A ENSP00000515217.1:n.184+20T>A
ENST00000703172.1:c.100+20T>A ENSP00000515218.1:n.100+20T>A
ENST00000703173.1:c.184+20T>A ENSP00000515219.1:n.184+20T>A
ENST00000703174.1:c.184+20T>A ENSP00000515220.1:n.184+20T>A
ENST00000703176.1:c.151+20T>A ENSP00000515221.1:n.151+20T>A
ENST00000703177.1:c.100+20T>A ENSP00000515222.1:n.100+20T>A
ENST00000395366.3:c.184+20T>A MANE Select ENSP00000378769.2:n.184+20T>A
ENST00000296122.10:c.184+20T>A ENSP00000296122.6:n.184+20T>A
ENST00000358506.6:c.184+20T>A ENSP00000351298.2:n.184+20T>A
ENST00000395366.2:c.184+20T>A ENSP00000378769.2:n.184+20T>A
ENST00000420282.5:c.184+20T>A ENSP00000398839.1:n.184+20T>A
ENST00000427786.1:c.100+20T>A ENSP00000394589.1:n.100+20T>A
ENST00000441461.5:c.184+20T>A ENSP00000414918.1:n.184+20T>A
ENST00000455580.5:c.100+20T>A ENSP00000390715.1:n.100+20T>A
ENST00000464273.1:n.318T>A
NM_002709.2:c.184+20T>A NP_002700.1:n.184+20T>A
NM_206876.1:c.184+20T>A NP_996759.1:n.184+20T>A
NM_002709.3:c.184+20T>A MANE Select NP_002700.1:n.184+20T>A
NM_206876.2:c.184+20T>A NP_996759.1:n.184+20T>A