Canonical Allele Identifier: CA377487477
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965458A>T , CM000672.2:g.87965458A>T GRCh38
NC_000010.10:g.89725215A>T , CM000672.1:g.89725215A>T GRCh37
NC_000010.9:g.89715195A>T NCBI36
NG_007466.2:g.107020A>T , LRG_311:g.107020A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1291A>T ENSP00000514759.2:p.Ile431Phe
ENST00000710265.1:c.*227A>T ENSP00000518161.1:n.*227A>T
ENST00000688158.2:n.1933A>T
ENST00000688922.2:c.*1028A>T ENSP00000508742.2:n.*1028A>T
ENST00000700021.1:c.1153A>T ENSP00000514757.1:p.Ile385Phe
ENST00000700022.1:c.*537A>T ENSP00000514758.1:n.*537A>T
ENST00000700023.1:n.2356A>T
ENST00000700024.1:n.2590A>T
ENST00000706954.1:c.1198A>T ENSP00000516674.1:p.Ile400Phe
ENST00000706955.1:c.*1233A>T ENSP00000516675.1:n.*1233A>T
ENST00000686459.1:c.*784A>T ENSP00000508909.1:n.*784A>T
ENST00000688158.1:c.*1309A>T ENSP00000509254.1:n.*1309A>T
ENST00000688308.1:c.1198A>T ENSP00000508752.1:p.Ile400Phe
ENST00000688922.1:c.1119A>T
ENST00000693560.1:c.1717A>T ENSP00000509861.1:p.Ile573Phe
ENST00000371953.8:c.1198A>T MANE Select ENSP00000361021.3:p.Ile400Phe
ENST00000371953.7:c.1198A>T ENSP00000361021.3:p.Ile400Phe
NM_000314.5:c.1198A>T NP_000305.3:p.Ile400Phe
NM_000314.6:c.1198A>T NP_000305.3:p.Ile400Phe
NM_001304717.2:c.1717A>T NP_001291646.2:p.Ile573Phe
NM_001304718.1:c.607A>T NP_001291647.1:p.Ile203Phe
XM_006717926.2:c.1153A>T XP_006717989.1:p.Ile385Phe
XM_011539982.1:c.1102A>T XP_011538284.1:p.Ile368Phe
XR_945791.1:n.1768A>T
NM_000314.7:c.1198A>T NP_000305.3:p.Ile400Phe
NM_001304717.5:c.1717A>T NP_001291646.4:p.Ile573Phe
NM_001304718.2:c.607A>T NP_001291647.1:p.Ile203Phe
NM_000314.8:c.1198A>T MANE Select NP_000305.3:p.Ile400Phe