Canonical Allele Identifier: CA400451584

Gene: PPM1D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60656791C>T , CM000679.2:g.60656791C>T	GRCh38
NC_000017.10:g.58734152C>T , CM000679.1:g.58734152C>T	GRCh37
NC_000017.9:g.56088934C>T	NCBI36
NG_023265.1:g.61599C>T , LRG_770:g.61599C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003620.4:c.1210C>T MANE Select	NP_003611.1:p.Gln404Ter
ENST00000305921.8:c.1210C>T MANE Select	ENSP00000306682.2:p.Gln404Ter
NM_003620.3:c.1210C>T , LRG_770t1:c.1210C>T	NP_003611.1:p.Gln404Ter
ENST00000305921.7:c.1210C>T	ENSP00000306682.2:p.Gln404Ter
ENST00000392995.7:c.1210C>T	ENSP00000376720.3:p.Gln404Ter
ENST00000629650.2:c.1210C>T	ENSP00000486573.1:p.Gln404Ter
ENST00000629650.3:c.1210C>T	ENSP00000486573.2:p.Gln404Ter
ENST00000685212.1:c.*875C>T	ENSP00000509022.1:n.*875C>T
ENST00000686064.1:c.906-6204C>T
ENST00000687355.1:c.1253C>T	ENSP00000509296.1:n.1253C>T
ENST00000688505.1:c.*188-6204C>T	ENSP00000510754.1:n.*188-6204C>T
ENST00000689445.1:c.1049C>T
ENST00000692386.1:n.1851C>T
ENST00000693102.1:c.*504C>T	ENSP00000509183.1:n.*504C>T
ENST00000693196.1:c.*712C>T	ENSP00000510177.1:n.*712C>T
XR_934577.1:n.1438C>T
XR_934577.2:n.1438C>T