Canonical Allele Identifier: CA377485551
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 468719
dbSNP Id: rs1474354667

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960930A>G , CM000672.2:g.87960930A>G GRCh38
NC_000010.10:g.89720687A>G , CM000672.1:g.89720687A>G GRCh37
NC_000010.9:g.89710667A>G NCBI36
NG_007466.2:g.102492A>G , LRG_311:g.102492A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.931A>G ENSP00000514759.2:p.Ile311Val
ENST00000710265.1:c.838A>G ENSP00000518161.1:p.Ile280Val
ENST00000472832.3:c.838A>G ENSP00000483066.2:p.Ile280Val
ENST00000688158.2:n.1573A>G
ENST00000688922.2:c.*668A>G ENSP00000508742.2:n.*668A>G
ENST00000700021.1:c.793A>G ENSP00000514757.1:p.Ile265Val
ENST00000700022.1:c.*177A>G ENSP00000514758.1:n.*177A>G
ENST00000700023.1:n.1996A>G
ENST00000700024.1:n.2230A>G
ENST00000700025.1:n.1607A>G
ENST00000700026.1:n.475A>G
ENST00000700029.1:c.765A>G
ENST00000706954.1:c.838A>G ENSP00000516674.1:p.Ile280Val
ENST00000706955.1:c.*873A>G ENSP00000516675.1:n.*873A>G
ENST00000686459.1:c.*424A>G ENSP00000508909.1:n.*424A>G
ENST00000688158.1:c.*949A>G ENSP00000509254.1:n.*949A>G
ENST00000688308.1:c.838A>G ENSP00000508752.1:p.Ile280Val
ENST00000688922.1:c.759A>G
ENST00000693560.1:c.1357A>G ENSP00000509861.1:p.Ile453Val
ENST00000371953.8:c.838A>G MANE Select ENSP00000361021.3:p.Ile280Val
ENST00000371953.7:c.838A>G ENSP00000361021.3:p.Ile280Val
ENST00000472832.2:c.265A>G ENSP00000483066.1:p.Ile89Val
NM_000314.5:c.838A>G NP_000305.3:p.Ile280Val
NM_000314.6:c.838A>G NP_000305.3:p.Ile280Val
NM_001304717.2:c.1357A>G NP_001291646.2:p.Ile453Val
NM_001304718.1:c.247A>G NP_001291647.1:p.Ile83Val
XM_006717926.2:c.793A>G XP_006717989.1:p.Ile265Val
XM_011539981.1:c.838A>G XP_011538283.1:p.Ile280Val
XM_011539982.1:c.742A>G XP_011538284.1:p.Ile248Val
XR_945791.1:n.1408A>G
NM_000314.7:c.838A>G NP_000305.3:p.Ile280Val
NM_001304717.5:c.1357A>G NP_001291646.4:p.Ile453Val
NM_001304718.2:c.247A>G NP_001291647.1:p.Ile83Val
NM_000314.8:c.838A>G MANE Select NP_000305.3:p.Ile280Val