Canonical Allele Identifier: CA8687778

Gene: PPM1D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60663139A>G , CM000679.2:g.60663139A>G	GRCh38
NC_000017.10:g.58740500A>G , CM000679.1:g.58740500A>G	GRCh37
NC_000017.9:g.56095282A>G	NCBI36
NG_023265.1:g.67947A>G , LRG_770:g.67947A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003620.4:c.1405A>G MANE Select	NP_003611.1:p.Lys469Glu
ENST00000305921.8:c.1405A>G MANE Select	ENSP00000306682.2:p.Lys469Glu
NM_003620.3:c.1405A>G , LRG_770t1:c.1405A>G	NP_003611.1:p.Lys469Glu
ENST00000305921.7:c.1405A>G	ENSP00000306682.2:p.Lys469Glu
ENST00000392995.7:c.*223A>G	ENSP00000376720.3:n.*223A>G
ENST00000685212.1:c.*1070A>G	ENSP00000509022.1:n.*1070A>G
ENST00000686064.1:c.1050A>G
ENST00000687355.1:c.1448A>G	ENSP00000509296.1:n.1448A>G
ENST00000688505.1:c.*332A>G	ENSP00000510754.1:n.*332A>G
ENST00000689445.1:c.1244A>G
ENST00000692386.1:n.2046A>G
ENST00000693102.1:c.*699A>G	ENSP00000509183.1:n.*699A>G
ENST00000693196.1:c.*907A>G	ENSP00000510177.1:n.*907A>G
XR_934577.2:n.1744A>G