Canonical Allele Identifier: CA225909
Gene: PPP1R1B HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39635654C>A , CM000679.2:g.39635654C>A GRCh38
NC_000017.10:g.37791907C>A , CM000679.1:g.37791907C>A GRCh37
NC_000017.9:g.35045433C>A NCBI36
NG_030330.1:g.13731C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254079.9:c.493C>A MANE Select ENSP00000254079.4:p.Arg165Ser
ENST00000254079.8:c.493C>A ENSP00000254079.4:p.Arg165Ser
ENST00000394265.5:c.385C>A ENSP00000377808.1:p.Arg129Ser
ENST00000394267.2:c.385C>A ENSP00000377810.2:p.Arg129Ser
ENST00000492037.5:n.410C>A
ENST00000579000.5:c.394C>A ENSP00000462841.1:p.Arg132Ser
ENST00000580029.1:n.1997C>A
ENST00000580825.5:c.493C>A ENSP00000462137.1:p.Arg165Ser
ENST00000583446.5:n.517C>A
NM_001242464.1:c.385C>A NP_001229393.1:p.Arg129Ser
NM_032192.3:c.493C>A NP_115568.2:p.Arg165Ser
NM_181505.3:c.385C>A NP_852606.1:p.Arg129Ser
XM_006722137.2:c.493C>A XP_006722200.1:p.Arg165Ser
XM_017025216.2:c.493C>A XP_016880705.1:p.Arg165Ser
XM_017025217.2:c.385C>A XP_016880706.1:p.Arg129Ser
NM_032192.4:c.493C>A MANE Select NP_115568.2:p.Arg165Ser
NM_001242464.2:c.385C>A NP_001229393.1:p.Arg129Ser
NM_181505.4:c.385C>A NP_852606.1:p.Arg129Ser