Canonical Allele Identifier: CA3005265
Community Standard Title: NM_152542.5(PPM1K):c.527G>A (p.Arg176His)
Gene: PPM1K HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88277157C>T , CM000666.2:g.88277157C>T GRCh38
NC_000004.11:g.89198309C>T , CM000666.1:g.89198309C>T GRCh37
NC_000004.10:g.89417333C>T NCBI36
NG_032931.1:g.12675G>A

Transcript Alleles

HGVS Amino-acid Change
NM_152542.5:c.527G>A MANE Select NP_689755.3:p.Arg176His
ENST00000608933.6:c.527G>A MANE Select ENSP00000477341.1:p.Arg176His
NM_152542.4:c.527G>A NP_689755.3:p.Arg176His
ENST00000295908.11:c.527G>A ENSP00000295908.7:p.Arg176His
ENST00000506423.1:n.742G>A
ENST00000508256.5:c.-131G>A ENSP00000476452.1:n.-131G>A
ENST00000510548.6:c.-131G>A ENSP00000476789.1:n.-131G>A
ENST00000511506.1:n.411G>A
ENST00000513546.3:n.2544G>A
ENST00000514204.1:c.527G>A ENSP00000477241.1:p.Arg176His
ENST00000608933.5:c.527G>A ENSP00000477341.1:p.Arg176His
XM_005262775.2:c.527G>A XP_005262832.1:p.Arg176His
XM_005262775.4:c.527G>A XP_005262832.1:p.Arg176His
XM_006714111.2:c.527G>A XP_006714174.1:p.Arg176His
XM_006714111.4:c.527G>A XP_006714174.1:p.Arg176His
XM_011531669.1:c.527G>A XP_011529971.1:p.Arg176His
XM_011531670.1:c.527G>A XP_011529972.1:p.Arg176His
XM_017007803.2:c.527G>A XP_016863292.1:p.Arg176His
XM_017007804.2:c.7G>A XP_016863293.1:p.Ala3Thr
XM_017007805.2:c.7G>A XP_016863294.1:p.Ala3Thr
XM_017007806.2:c.7G>A XP_016863295.1:p.Ala3Thr
XM_017007807.2:c.-22G>A XP_016863296.1:n.-22G>A