Canonical Allele Identifier: CA16621552

Gene: PPM1D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60663015G>A , CM000679.2:g.60663015G>A	GRCh38
NC_000017.10:g.58740376G>A , CM000679.1:g.58740376G>A	GRCh37
NC_000017.9:g.56095158G>A	NCBI36
NG_023265.1:g.67823G>A , LRG_770:g.67823G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003620.4:c.1281G>A MANE Select	NP_003611.1:p.Trp427Ter
ENST00000305921.8:c.1281G>A MANE Select	ENSP00000306682.2:p.Trp427Ter
NM_003620.3:c.1281G>A , LRG_770t1:c.1281G>A	NP_003611.1:p.Trp427Ter
ENST00000305921.7:c.1281G>A	ENSP00000306682.2:p.Trp427Ter
ENST00000392995.7:c.*99G>A	ENSP00000376720.3:n.*99G>A
ENST00000685212.1:c.*946G>A	ENSP00000509022.1:n.*946G>A
ENST00000686064.1:c.926G>A
ENST00000687355.1:c.1324G>A	ENSP00000509296.1:n.1324G>A
ENST00000688505.1:c.*208G>A	ENSP00000510754.1:n.*208G>A
ENST00000689445.1:c.1120G>A
ENST00000692386.1:n.1922G>A
ENST00000693102.1:c.*575G>A	ENSP00000509183.1:n.*575G>A
ENST00000693196.1:c.*783G>A	ENSP00000510177.1:n.*783G>A
XR_934577.1:n.1620G>A
XR_934577.2:n.1620G>A