Canonical Allele Identifier: CA2581431029
Community Standard Title: NM_152542.5(PPM1K):c.-60+1888T>G
Gene: PPM1K HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88282518A>C , CM000666.2:g.88282518A>C GRCh38
NC_000004.11:g.89203670A>C , CM000666.1:g.89203670A>C GRCh37
NC_000004.10:g.89422694A>C NCBI36
NG_032931.1:g.7314T>G

Transcript Alleles

HGVS Amino-acid Change
NM_152542.5:c.-60+1888T>G MANE Select NP_689755.3:n.-60+1888T>G
ENST00000608933.6:c.-60+1888T>G MANE Select ENSP00000477341.1:n.-60+1888T>G
NM_152542.4:c.-60+1888T>G NP_689755.3:n.-60+1888T>G
ENST00000295908.11:c.-60+1888T>G ENSP00000295908.7:n.-60+1888T>G
ENST00000505022.1:c.-60+1257T>G ENSP00000477051.1:n.-60+1257T>G
ENST00000506423.1:n.156+1888T>G
ENST00000508256.5:c.-218+1888T>G ENSP00000476452.1:n.-218+1888T>G
ENST00000509340.1:c.-60+1257T>G ENSP00000477211.1:n.-60+1257T>G
ENST00000510548.6:c.-325+1888T>G ENSP00000476789.1:n.-325+1888T>G
ENST00000514204.1:c.-60+1888T>G ENSP00000477241.1:n.-60+1888T>G
ENST00000608933.5:c.-60+1888T>G ENSP00000477341.1:n.-60+1888T>G
XM_005262775.2:c.-60+1888T>G XP_005262832.1:n.-60+1888T>G
XM_005262775.4:c.-60+1888T>G XP_005262832.1:n.-60+1888T>G
XM_006714111.2:c.-60+1257T>G XP_006714174.1:n.-60+1257T>G
XM_006714111.4:c.-60+1257T>G XP_006714174.1:n.-60+1257T>G
XM_011531669.1:c.-60+1888T>G XP_011529971.1:n.-60+1888T>G
XM_011531670.1:c.-60+1888T>G XP_011529972.1:n.-60+1888T>G
XM_017007803.2:c.-60+1662T>G XP_016863292.1:n.-60+1662T>G
XM_017007804.2:c.-580+1888T>G XP_016863293.1:n.-580+1888T>G
XM_017007805.2:c.-580+1888T>G XP_016863294.1:n.-580+1888T>G
XM_017007806.2:c.-81+1888T>G XP_016863295.1:n.-81+1888T>G