Canonical Allele Identifier: CA000633
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 189423
dbSNP Id: rs746930141

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961011G>T , CM000672.2:g.87961011G>T GRCh38
NC_000010.10:g.89720768G>T , CM000672.1:g.89720768G>T GRCh37
NC_000010.9:g.89710748G>T NCBI36
NG_007466.2:g.102573G>T , LRG_311:g.102573G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1012G>T ENSP00000514759.2:p.Glu338Ter
ENST00000710265.1:c.919G>T ENSP00000518161.1:p.Glu307Ter
ENST00000472832.3:c.919G>T ENSP00000483066.2:p.Glu307Ter
ENST00000688158.2:n.1654G>T
ENST00000688922.2:c.*749G>T ENSP00000508742.2:n.*749G>T
ENST00000700021.1:c.874G>T ENSP00000514757.1:p.Glu292Ter
ENST00000700022.1:c.*258G>T ENSP00000514758.1:n.*258G>T
ENST00000700023.1:n.2077G>T
ENST00000700024.1:n.2311G>T
ENST00000700025.1:n.1688G>T
ENST00000700026.1:n.556G>T
ENST00000706954.1:c.919G>T ENSP00000516674.1:p.Glu307Ter
ENST00000706955.1:c.*954G>T ENSP00000516675.1:n.*954G>T
ENST00000686459.1:c.*505G>T ENSP00000508909.1:n.*505G>T
ENST00000688158.1:c.*1030G>T ENSP00000509254.1:n.*1030G>T
ENST00000688308.1:c.919G>T ENSP00000508752.1:p.Glu307Ter
ENST00000688922.1:c.840G>T
ENST00000693560.1:c.1438G>T ENSP00000509861.1:p.Glu480Ter
ENST00000371953.8:c.919G>T MANE Select ENSP00000361021.3:p.Glu307Ter
ENST00000371953.7:c.919G>T ENSP00000361021.3:p.Glu307Ter
ENST00000472832.2:c.346G>T ENSP00000483066.1:p.Glu116Ter
NM_000314.5:c.919G>T NP_000305.3:p.Glu307Ter
NM_000314.6:c.919G>T NP_000305.3:p.Glu307Ter
NM_001304717.2:c.1438G>T NP_001291646.2:p.Glu480Ter
NM_001304718.1:c.328G>T NP_001291647.1:p.Glu110Ter
XM_006717926.2:c.874G>T XP_006717989.1:p.Glu292Ter
XM_011539981.1:c.919G>T XP_011538283.1:p.Glu307Ter
XM_011539982.1:c.823G>T XP_011538284.1:p.Glu275Ter
XR_945791.1:n.1489G>T
NM_000314.7:c.919G>T NP_000305.3:p.Glu307Ter
NM_001304717.5:c.1438G>T NP_001291646.4:p.Glu480Ter
NM_001304718.2:c.328G>T NP_001291647.1:p.Glu110Ter
NM_000314.8:c.919G>T MANE Select NP_000305.3:p.Glu307Ter