Canonical Allele Identifier: CA2788898531
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87966790G>T , CM000672.2:g.87966790G>T GRCh38
NC_000010.10:g.89726547G>T , CM000672.1:g.89726547G>T GRCh37
NC_000010.9:g.89716527G>T NCBI36
NG_007466.2:g.108352G>T , LRG_311:g.108352G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.*1318G>T ENSP00000514759.2:n.*1318G>T
ENST00000710265.1:c.*1559G>T ENSP00000518161.1:n.*1559G>T
ENST00000688158.2:n.3265G>T
ENST00000688922.2:c.*2360G>T ENSP00000508742.2:n.*2360G>T
ENST00000700021.1:c.*1318G>T ENSP00000514757.1:n.*1318G>T
ENST00000700022.1:c.*1869G>T ENSP00000514758.1:n.*1869G>T
ENST00000700024.1:n.3922G>T
ENST00000706954.1:c.*1318G>T ENSP00000516674.1:n.*1318G>T
ENST00000706955.1:c.*2565G>T ENSP00000516675.1:n.*2565G>T
ENST00000688158.1:c.*2641G>T ENSP00000509254.1:n.*2641G>T
ENST00000688308.1:c.*1318G>T ENSP00000508752.1:n.*1318G>T
ENST00000688922.1:c.2451G>T
ENST00000693560.1:c.*1318G>T ENSP00000509861.1:n.*1318G>T
ENST00000371953.8:c.*1318G>T MANE Select ENSP00000361021.3:n.*1318G>T
ENST00000371953.7:c.*1318G>T ENSP00000361021.3:n.*1318G>T
NM_000314.5:c.*1318G>T NP_000305.3:n.*1318G>T
NM_000314.6:c.*1318G>T NP_000305.3:n.*1318G>T
NM_001304717.2:c.*1318G>T NP_001291646.2:n.*1318G>T
NM_001304718.1:c.*1318G>T NP_001291647.1:n.*1318G>T
XM_006717926.2:c.*1318G>T XP_006717989.1:n.*1318G>T
XM_011539982.1:c.*1318G>T XP_011538284.1:n.*1318G>T
XR_945791.1:n.3100G>T
NM_000314.7:c.*1318G>T NP_000305.3:n.*1318G>T
NM_001304717.5:c.*1318G>T NP_001291646.4:n.*1318G>T
NM_001304718.2:c.*1318G>T NP_001291647.1:n.*1318G>T
NM_000314.8:c.*1318G>T MANE Select NP_000305.3:n.*1318G>T