Canonical Allele Identifier: CA8687856

Gene: PPM1D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60663448C>T , CM000679.2:g.60663448C>T	GRCh38
NC_000017.10:g.58740809C>T , CM000679.1:g.58740809C>T	GRCh37
NC_000017.9:g.56095591C>T	NCBI36
NG_023265.1:g.68256C>T , LRG_770:g.68256C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003620.4:c.1714C>T MANE Select	NP_003611.1:p.Arg572Ter
ENST00000305921.8:c.1714C>T MANE Select	ENSP00000306682.2:p.Arg572Ter
NM_003620.3:c.1714C>T , LRG_770t1:c.1714C>T	NP_003611.1:p.Arg572Ter
ENST00000305921.7:c.1714C>T	ENSP00000306682.2:p.Arg572Ter
ENST00000392995.7:c.*532C>T	ENSP00000376720.3:n.*532C>T
ENST00000685212.1:c.*1379C>T	ENSP00000509022.1:n.*1379C>T
ENST00000686064.1:c.1359C>T
ENST00000687355.1:c.1757C>T	ENSP00000509296.1:n.1757C>T
ENST00000688505.1:c.*641C>T	ENSP00000510754.1:n.*641C>T
ENST00000689445.1:c.1553C>T
ENST00000692386.1:n.2355C>T
ENST00000693102.1:c.*1008C>T	ENSP00000509183.1:n.*1008C>T
ENST00000693196.1:c.*1216C>T	ENSP00000510177.1:n.*1216C>T
XR_934577.2:n.2053C>T