Canonical Allele Identifier: CA000332
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 189402
ClinVar RCV Id: RCV000490582 RCV000491953 RCV000785574 RCV003454430
dbSNP Id: rs398123316
COSMIC: COSM5042
MyVariant Identifiers: chr10:g.89685287A>G (hg19) chr10:g.87925530A>G (hg38)
PubMed: PMID:28526761
ERepo: CA000332/MONDO:0017623/003
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87925530A>G , CM000672.2:g.87925530A>G GRCh38
NC_000010.10:g.89685287A>G , CM000672.1:g.89685287A>G GRCh37
NC_000010.9:g.89675267A>G NCBI36
NG_007466.2:g.67092A>G , LRG_311:g.67092A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.182A>G ENSP00000514759.2:p.His61Arg
ENST00000710265.1:c.182A>G ENSP00000518161.1:p.His61Arg
ENST00000472832.3:c.182A>G ENSP00000483066.2:p.His61Arg
ENST00000688158.2:n.917A>G
ENST00000688922.2:c.182A>G ENSP00000508742.2:p.His61Arg
ENST00000700021.1:c.165-5516A>G ENSP00000514757.1:n.165-5516A>G
ENST00000700022.1:c.182A>G ENSP00000514758.1:p.His61Arg
ENST00000700029.1:c.16A>G
ENST00000706954.1:c.182A>G ENSP00000516674.1:p.His61Arg
ENST00000706955.1:c.*217A>G ENSP00000516675.1:n.*217A>G
ENST00000686459.1:c.182A>G ENSP00000508909.1:p.His61Arg
ENST00000688158.1:c.*293A>G ENSP00000509254.1:n.*293A>G
ENST00000688308.1:c.182A>G ENSP00000508752.1:p.His61Arg
ENST00000688922.1:c.51A>G
ENST00000693560.1:c.701A>G ENSP00000509861.1:p.His234Arg
ENST00000371953.8:c.182A>G MANE Select ENSP00000361021.3:p.His61Arg
ENST00000371953.7:c.182A>G ENSP00000361021.3:p.His61Arg
ENST00000498703.1:n.8A>G
ENST00000610634.1:c.80A>G ENSP00000477517.1:p.His27Arg
NM_000314.5:c.182A>G NP_000305.3:p.His61Arg
NM_000314.6:c.182A>G NP_000305.3:p.His61Arg
NM_001304717.2:c.701A>G NP_001291646.2:p.His234Arg
NM_001304718.1:c.-541-5516A>G NP_001291647.1:n.-541-5516A>G
XM_006717926.2:c.165-5516A>G XP_006717989.1:n.165-5516A>G
XM_011539981.1:c.182A>G XP_011538283.1:p.His61Arg
XM_011539982.1:c.86A>G XP_011538284.1:p.His29Arg
XR_945789.1:n.894A>G
XR_945790.1:n.894A>G
XR_945791.1:n.894A>G
NM_000314.7:c.182A>G NP_000305.3:p.His61Arg
NM_001304717.5:c.701A>G NP_001291646.4:p.His234Arg
NM_001304718.2:c.-541-5516A>G NP_001291647.1:n.-541-5516A>G
NM_000314.8:c.182A>G MANE Select NP_000305.3:p.His61Arg
Search 100 bp 5'
Search 100 bp 3'