Canonical Allele Identifier: CA1589167

Gene: PPP1CB

Linked Data

• dbSNP Id: rs138103928
• ExAC: 2:28999812 A / G
• gnomAD v2: 2-28999812-A-G
• gnomAD v3: 2-28776946-A-G
• gnomAD v4: 2-28776946-A-G
• MyVariant Identifiers: chr2:g.28999812A>G (hg19) ; chr2:g.28776946A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.28776946A>G , CM000664.2:g.28776946A>G	GRCh38
NC_000002.11:g.28999812A>G , CM000664.1:g.28999812A>G	GRCh37
NC_000002.10:g.28853316A>G	NCBI36
NG_052878.1:g.30199A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000418910.2:c.148A>G	ENSP00000388056.2:p.Ile50Val
ENST00000420282.6:c.148A>G	ENSP00000398839.2:p.Ile50Val
ENST00000427786.2:c.64A>G	ENSP00000394589.1:p.Ile22Val
ENST00000441461.6:c.148A>G	ENSP00000414918.2:p.Ile50Val
ENST00000455580.6:c.64A>G	ENSP00000390715.2:p.Ile22Val
ENST00000703171.1:c.148A>G	ENSP00000515217.1:p.Ile50Val
ENST00000703172.1:c.64A>G	ENSP00000515218.1:p.Ile22Val
ENST00000703173.1:c.148A>G	ENSP00000515219.1:p.Ile50Val
ENST00000703174.1:c.148A>G	ENSP00000515220.1:p.Ile50Val
ENST00000703176.1:c.115A>G	ENSP00000515221.1:p.Ile39Val
ENST00000703177.1:c.64A>G	ENSP00000515222.1:p.Ile22Val
ENST00000395366.3:c.148A>G MANE Select	ENSP00000378769.2:p.Ile50Val
ENST00000296122.10:c.148A>G	ENSP00000296122.6:p.Ile50Val
ENST00000358506.6:c.148A>G	ENSP00000351298.2:p.Ile50Val
ENST00000395366.2:c.148A>G	ENSP00000378769.2:p.Ile50Val
ENST00000420282.5:c.148A>G	ENSP00000398839.1:p.Ile50Val
ENST00000427786.1:c.64A>G	ENSP00000394589.1:p.Ile22Val
ENST00000441461.5:c.148A>G	ENSP00000414918.1:p.Ile50Val
ENST00000455580.5:c.64A>G	ENSP00000390715.1:p.Ile22Val
ENST00000464273.1:n.262A>G
NM_002709.2:c.148A>G	NP_002700.1:p.Ile50Val
NM_206876.1:c.148A>G	NP_996759.1:p.Ile50Val
NM_002709.3:c.148A>G MANE Select	NP_002700.1:p.Ile50Val
NM_206876.2:c.148A>G	NP_996759.1:p.Ile50Val