Canonical Allele Identifier: CA000437
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 7829
ClinVar RCV Id: RCV000008275 RCV000131067 RCV000212880 RCV000178761 RCV000419778 RCV000422627 RCV000435236 RCV000420647 RCV000437651 RCV000421074 RCV000429864 RCV000420485 RCV000432211 RCV000427853 RCV000438720 RCV000429175 RCV000439397 RCV000440076 RCV000432862 RCV002228017
dbSNP Id: rs121909229
gnomAD v4: 10-87933148-G-A
COSMIC: COSM5033
MyVariant Identifiers: chr10:g.89692905G>A (hg19) chr10:g.87933148G>A (hg38)
ERepo: CA000437/MONDO:0017623/003
PubMed: PMID:9915974 PMID:10866302 PMID:11504908 PMID:11875759 PMID:16773562 PMID:17942903 PMID:18767981 PMID:19457929 PMID:20085938 PMID:20300775 PMID:21659347 PMID:21822720 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22595938 PMID:23399955 PMID:23470840 PMID:23891399 PMID:25157968 PMID:26619011 PMID:26798346 PMID:27477328
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933148G>A , CM000672.2:g.87933148G>A GRCh38
NC_000010.10:g.89692905G>A , CM000672.1:g.89692905G>A GRCh37
NC_000010.9:g.89682885G>A NCBI36
NG_007466.2:g.74710G>A , LRG_311:g.74710G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.389G>A ENSP00000514759.2:p.Arg130Gln
ENST00000710265.1:c.389G>A ENSP00000518161.1:p.Arg130Gln
ENST00000472832.3:c.389G>A ENSP00000483066.2:p.Arg130Gln
ENST00000688158.2:n.1124G>A
ENST00000688922.2:c.*219G>A ENSP00000508742.2:n.*219G>A
ENST00000700021.1:c.344G>A ENSP00000514757.1:p.Arg115Gln
ENST00000700022.1:c.389G>A ENSP00000514758.1:p.Arg130Gln
ENST00000700029.1:c.223G>A
ENST00000706954.1:c.389G>A ENSP00000516674.1:p.Arg130Gln
ENST00000706955.1:c.*424G>A ENSP00000516675.1:n.*424G>A
ENST00000686459.1:c.389G>A ENSP00000508909.1:p.Arg130Gln
ENST00000688158.1:c.*500G>A ENSP00000509254.1:n.*500G>A
ENST00000688308.1:c.389G>A ENSP00000508752.1:p.Arg130Gln
ENST00000688922.1:c.310G>A
ENST00000693560.1:c.908G>A ENSP00000509861.1:p.Arg303Gln
ENST00000371953.8:c.389G>A MANE Select ENSP00000361021.3:p.Arg130Gln
ENST00000371953.7:c.389G>A ENSP00000361021.3:p.Arg130Gln
ENST00000498703.1:n.215G>A
ENST00000610634.1:c.287G>A ENSP00000477517.1:p.Arg96Gln
NM_000314.5:c.389G>A NP_000305.3:p.Arg130Gln
NM_000314.6:c.389G>A NP_000305.3:p.Arg130Gln
NM_001304717.2:c.908G>A NP_001291646.2:p.Arg303Gln
NM_001304718.1:c.-362G>A NP_001291647.1:n.-362G>A
XM_006717926.2:c.344G>A XP_006717989.1:p.Arg115Gln
XM_011539981.1:c.389G>A XP_011538283.1:p.Arg130Gln
XM_011539982.1:c.293G>A XP_011538284.1:p.Arg98Gln
XR_945789.1:n.1101G>A
XR_945790.1:n.1101G>A
XR_945791.1:n.1101G>A
NM_000314.7:c.389G>A NP_000305.3:p.Arg130Gln
NM_001304717.5:c.908G>A NP_001291646.4:p.Arg303Gln
NM_001304718.2:c.-362G>A NP_001291647.1:n.-362G>A
NM_000314.8:c.389G>A MANE Select NP_000305.3:p.Arg130Gln
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