Canonical Allele Identifier: CA346581091

Gene: PPP1CB

Linked Data

• ClinVar Variation Id: 2504232
• ClinVar RCV Id: RCV003231692
• MyVariant Identifiers: chr2:g.28999809C>A (hg19) ; chr2:g.28776943C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418910.2:c.145C>A	ENSP00000388056.2:p.Pro49Thr
ENST00000420282.6:c.145C>A	ENSP00000398839.2:p.Pro49Thr
ENST00000427786.2:c.61C>A	ENSP00000394589.1:p.Pro21Thr
ENST00000441461.6:c.145C>A	ENSP00000414918.2:p.Pro49Thr
ENST00000455580.6:c.61C>A	ENSP00000390715.2:p.Pro21Thr
ENST00000703171.1:c.145C>A	ENSP00000515217.1:p.Pro49Thr
ENST00000703172.1:c.61C>A	ENSP00000515218.1:p.Pro21Thr
ENST00000703173.1:c.145C>A	ENSP00000515219.1:p.Pro49Thr
ENST00000703174.1:c.145C>A	ENSP00000515220.1:p.Pro49Thr
ENST00000703176.1:c.112C>A	ENSP00000515221.1:p.Pro38Thr
ENST00000703177.1:c.61C>A	ENSP00000515222.1:p.Pro21Thr
ENST00000395366.3:c.145C>A MANE Select	ENSP00000378769.2:p.Pro49Thr
ENST00000296122.10:c.145C>A	ENSP00000296122.6:p.Pro49Thr
ENST00000358506.6:c.145C>A	ENSP00000351298.2:p.Pro49Thr
ENST00000395366.2:c.145C>A	ENSP00000378769.2:p.Pro49Thr
ENST00000420282.5:c.145C>A	ENSP00000398839.1:p.Pro49Thr
ENST00000427786.1:c.61C>A	ENSP00000394589.1:p.Pro21Thr
ENST00000441461.5:c.145C>A	ENSP00000414918.1:p.Pro49Thr
ENST00000455580.5:c.61C>A	ENSP00000390715.1:p.Pro21Thr
ENST00000464273.1:n.259C>A
NM_002709.2:c.145C>A	NP_002700.1:p.Pro49Thr
NM_206876.1:c.145C>A	NP_996759.1:p.Pro49Thr
NM_002709.3:c.145C>A MANE Select	NP_002700.1:p.Pro49Thr
NM_206876.2:c.145C>A	NP_996759.1:p.Pro49Thr