Canonical Allele Identifier: CA8687845

Gene: PPM1D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60663388C>T , CM000679.2:g.60663388C>T	GRCh38
NC_000017.10:g.58740749C>T , CM000679.1:g.58740749C>T	GRCh37
NC_000017.9:g.56095531C>T	NCBI36
NG_023265.1:g.68196C>T , LRG_770:g.68196C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003620.4:c.1654C>T MANE Select	NP_003611.1:p.Arg552Ter
ENST00000305921.8:c.1654C>T MANE Select	ENSP00000306682.2:p.Arg552Ter
NM_003620.3:c.1654C>T , LRG_770t1:c.1654C>T	NP_003611.1:p.Arg552Ter
ENST00000305921.7:c.1654C>T	ENSP00000306682.2:p.Arg552Ter
ENST00000392995.7:c.*472C>T	ENSP00000376720.3:n.*472C>T
ENST00000685212.1:c.*1319C>T	ENSP00000509022.1:n.*1319C>T
ENST00000686064.1:c.1299C>T
ENST00000687355.1:c.1697C>T	ENSP00000509296.1:n.1697C>T
ENST00000688505.1:c.*581C>T	ENSP00000510754.1:n.*581C>T
ENST00000689445.1:c.1493C>T
ENST00000692386.1:n.2295C>T
ENST00000693102.1:c.*948C>T	ENSP00000509183.1:n.*948C>T
ENST00000693196.1:c.*1156C>T	ENSP00000510177.1:n.*1156C>T
XR_934577.2:n.1993C>T