Canonical Allele Identifier: CA346581094
Gene: PPP1CB HGNC NCBI

Linked Data

gnomAD v4: 2-28776943-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.28776943C>G , CM000664.2:g.28776943C>G GRCh38
NC_000002.11:g.28999809C>G , CM000664.1:g.28999809C>G GRCh37
NC_000002.10:g.28853313C>G NCBI36
NG_052878.1:g.30196C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000418910.2:c.145C>G ENSP00000388056.2:p.Pro49Ala
ENST00000420282.6:c.145C>G ENSP00000398839.2:p.Pro49Ala
ENST00000427786.2:c.61C>G ENSP00000394589.1:p.Pro21Ala
ENST00000441461.6:c.145C>G ENSP00000414918.2:p.Pro49Ala
ENST00000455580.6:c.61C>G ENSP00000390715.2:p.Pro21Ala
ENST00000703171.1:c.145C>G ENSP00000515217.1:p.Pro49Ala
ENST00000703172.1:c.61C>G ENSP00000515218.1:p.Pro21Ala
ENST00000703173.1:c.145C>G ENSP00000515219.1:p.Pro49Ala
ENST00000703174.1:c.145C>G ENSP00000515220.1:p.Pro49Ala
ENST00000703176.1:c.112C>G ENSP00000515221.1:p.Pro38Ala
ENST00000703177.1:c.61C>G ENSP00000515222.1:p.Pro21Ala
ENST00000395366.3:c.145C>G MANE Select ENSP00000378769.2:p.Pro49Ala
ENST00000296122.10:c.145C>G ENSP00000296122.6:p.Pro49Ala
ENST00000358506.6:c.145C>G ENSP00000351298.2:p.Pro49Ala
ENST00000395366.2:c.145C>G ENSP00000378769.2:p.Pro49Ala
ENST00000420282.5:c.145C>G ENSP00000398839.1:p.Pro49Ala
ENST00000427786.1:c.61C>G ENSP00000394589.1:p.Pro21Ala
ENST00000441461.5:c.145C>G ENSP00000414918.1:p.Pro49Ala
ENST00000455580.5:c.61C>G ENSP00000390715.1:p.Pro21Ala
ENST00000464273.1:n.259C>G
NM_002709.2:c.145C>G NP_002700.1:p.Pro49Ala
NM_206876.1:c.145C>G NP_996759.1:p.Pro49Ala
NM_002709.3:c.145C>G MANE Select NP_002700.1:p.Pro49Ala
NM_206876.2:c.145C>G NP_996759.1:p.Pro49Ala