Canonical Allele Identifier: CA1926173361
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965293C= , CM000672.2:g.87965293C= GRCh38
NC_000010.10:g.89725050C= , CM000672.1:g.89725050C= GRCh37
NC_000010.9:g.89715030C= NCBI36
NG_007466.2:g.106855C= , LRG_311:g.106855C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1126C= ENSP00000514759.2:p.Leu376=
ENST00000710265.1:c.*62C= ENSP00000518161.1:n.*62C=
ENST00000688158.2:n.1768C=
ENST00000688922.2:c.*863C= ENSP00000508742.2:n.*863C=
ENST00000700021.1:c.988C= ENSP00000514757.1:p.Leu330=
ENST00000700022.1:c.*372C= ENSP00000514758.1:n.*372C=
ENST00000700023.1:n.2191C=
ENST00000700024.1:n.2425C=
ENST00000706954.1:c.1033C= ENSP00000516674.1:p.Leu345=
ENST00000706955.1:c.*1068C= ENSP00000516675.1:n.*1068C=
ENST00000686459.1:c.*619C= ENSP00000508909.1:n.*619C=
ENST00000688158.1:c.*1144C= ENSP00000509254.1:n.*1144C=
ENST00000688308.1:c.1033C= ENSP00000508752.1:p.Leu345=
ENST00000688922.1:c.954C=
ENST00000693560.1:c.1552C= ENSP00000509861.1:p.Leu518=
ENST00000371953.8:c.1033C= MANE Select ENSP00000361021.3:p.Leu345=
ENST00000371953.7:c.1033C= ENSP00000361021.3:p.Leu345=
NM_000314.5:c.1033C= NP_000305.3:p.Leu345=
NM_000314.6:c.1033C= NP_000305.3:p.Leu345=
NM_001304717.2:c.1552C= NP_001291646.2:p.Leu518=
NM_001304718.1:c.442C= NP_001291647.1:p.Leu148=
XM_006717926.2:c.988C= XP_006717989.1:p.Leu330=
XM_011539982.1:c.937C= XP_011538284.1:p.Leu313=
XR_945791.1:n.1603C=
NM_000314.7:c.1033C= NP_000305.3:p.Leu345=
NM_001304717.5:c.1552C= NP_001291646.4:p.Leu518=
NM_001304718.2:c.442C= NP_001291647.1:p.Leu148=
NM_000314.8:c.1033C= MANE Select NP_000305.3:p.Leu345=