Canonical Allele Identifier: CA16621553
Gene: PPM1D HGNC NCBI

Linked Data

ClinVar Variation Id: 424879
ClinVar RCV Id: RCV000488173
dbSNP Id: rs1064797100
MyVariant Identifiers: chr17:g.58734192dup (hg19) chr17:g.60656831dup (hg38)
PubMed: PMID:28135719 PMID:28343630
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.60656831dup , CM000679.2:g.60656831dup GRCh38
NC_000017.10:g.58734192dup , CM000679.1:g.58734192dup GRCh37
NC_000017.9:g.56088974dup NCBI36
NG_023265.1:g.61639dup , LRG_770:g.61639dup

Transcript Alleles

HGVS Amino-acid change
ENST00000629650.3:c.1250dup ENSP00000486573.2:p.Pro418ThrfsTer6
ENST00000685212.1:c.*915dup ENSP00000509022.1:n.*915dup
ENST00000686064.1:c.906-6164dup
ENST00000687355.1:c.1293dup ENSP00000509296.1:n.1293dup
ENST00000688505.1:c.*188-6164dup ENSP00000510754.1:n.*188-6164dup
ENST00000689445.1:c.1089dup
ENST00000692386.1:n.1891dup
ENST00000693102.1:c.*544dup ENSP00000509183.1:n.*544dup
ENST00000693196.1:c.*752dup ENSP00000510177.1:n.*752dup
ENST00000305921.8:c.1250dup MANE Select ENSP00000306682.2:p.Pro418ThrfsTer16
ENST00000305921.7:c.1250dup ENSP00000306682.2:p.Pro418ThrfsTer16
ENST00000392995.7:c.1250dup ENSP00000376720.3:p.Pro418ThrfsTer8
ENST00000629650.2:c.1250dup ENSP00000486573.1:p.Pro418ThrfsTer8
NM_003620.3:c.1250dup , LRG_770t1:c.1250dup NP_003611.1:p.Pro418ThrfsTer16
XR_934577.1:n.1478dup
XR_934577.2:n.1478dup
NM_003620.4:c.1250dup MANE Select NP_003611.1:p.Pro418ThrfsTer16
Search 100 bp 5'
Search 100 bp 3'