Canonical Allele Identifier: CA16621551
Gene: PPM1D HGNC NCBI

Linked Data

ClinVar Variation Id: 424877
ClinVar RCV Id: RCV000488394
dbSNP Id: rs1064797098
MyVariant Identifiers: chr17:g.58740365dup (hg19) chr17:g.60663004dup (hg38)
PubMed: PMID:28135719 PMID:28343630
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.60663004dup , CM000679.2:g.60663004dup GRCh38
NC_000017.10:g.58740365dup , CM000679.1:g.58740365dup GRCh37
NC_000017.9:g.56095147dup NCBI36
NG_023265.1:g.67812dup , LRG_770:g.67812dup

Transcript Alleles

HGVS Amino-acid change
ENST00000685212.1:c.*935dup ENSP00000509022.1:n.*935dup
ENST00000686064.1:c.915dup
ENST00000687355.1:c.1313dup ENSP00000509296.1:n.1313dup
ENST00000688505.1:c.*197dup ENSP00000510754.1:n.*197dup
ENST00000689445.1:c.1109dup
ENST00000692386.1:n.1911dup
ENST00000693102.1:c.*564dup ENSP00000509183.1:n.*564dup
ENST00000693196.1:c.*772dup ENSP00000510177.1:n.*772dup
ENST00000305921.8:c.1270dup MANE Select ENSP00000306682.2:p.Glu424GlyfsTer10
ENST00000305921.7:c.1270dup ENSP00000306682.2:p.Glu424GlyfsTer10
ENST00000392995.7:c.*88dup ENSP00000376720.3:n.*88dup
NM_003620.3:c.1270dup , LRG_770t1:c.1270dup NP_003611.1:p.Glu424GlyfsTer10
XR_934577.1:n.1609dup
XR_934577.2:n.1609dup
NM_003620.4:c.1270dup MANE Select NP_003611.1:p.Glu424GlyfsTer10
Search 100 bp 5'
Search 100 bp 3'