Canonical Allele Identifier: CA8532089
Gene: PPP1R1B HGNC NCBI
COSMIC:
COSN26571461 (not active)
MyVariant.info:
GRCh38 chr17:g.39634118G>A
GRCh37 chr17:g.37790371G>A
gnomAD v2:
17:37790371 G / A
gnomAD v3:
17:39634118 G / A
gnomAD v4:
chr17-39634118-G-A
Joint Max Group AF 0.78048955 (NFE)
Genomes Max Group AF 0.76267142 (NFE)
Exomes Max Group AF 0.78128299 (NFE)
dbSNP:
907094
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39634118G>A , CM000679.2:g.39634118G>A GRCh38
NC_000017.10:g.37790371G>A , CM000679.1:g.37790371G>A GRCh37
NC_000017.9:g.35043897G>A NCBI36
NG_030330.1:g.12195G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254079.9:c.445+32G>A MANE Select ENSP00000254079.4:n.445+32G>A
ENST00000254079.8:c.445+32G>A ENSP00000254079.4:n.445+32G>A
ENST00000394265.5:c.337+32G>A ENSP00000377808.1:n.337+32G>A
ENST00000394267.2:c.337+32G>A ENSP00000377810.2:n.337+32G>A
ENST00000492037.5:n.362+32G>A
ENST00000579000.5:c.346+32G>A ENSP00000462841.1:n.346+32G>A
ENST00000580029.1:n.1949+32G>A
ENST00000580825.5:c.445+32G>A ENSP00000462137.1:n.445+32G>A
ENST00000583446.5:n.469+32G>A
NM_001242464.1:c.337+32G>A NP_001229393.1:n.337+32G>A
NM_032192.3:c.445+32G>A NP_115568.2:n.445+32G>A
NM_181505.3:c.337+32G>A NP_852606.1:n.337+32G>A
XM_006722137.2:c.445+32G>A XP_006722200.1:n.445+32G>A
XM_017025216.2:c.445+32G>A XP_016880705.1:n.445+32G>A
XM_017025217.2:c.337+32G>A XP_016880706.1:n.337+32G>A
NM_032192.4:c.445+32G>A MANE Select NP_115568.2:n.445+32G>A
NM_001242464.2:c.337+32G>A NP_001229393.1:n.337+32G>A
NM_181505.4:c.337+32G>A NP_852606.1:n.337+32G>A
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