Canonical Allele Identifier: CA377487429
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs1564570482

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965438A>T , CM000672.2:g.87965438A>T GRCh38
NC_000010.10:g.89725195A>T , CM000672.1:g.89725195A>T GRCh37
NC_000010.9:g.89715175A>T NCBI36
NG_007466.2:g.107000A>T , LRG_311:g.107000A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1271A>T ENSP00000514759.2:p.Asp424Val
ENST00000710265.1:c.*207A>T ENSP00000518161.1:n.*207A>T
ENST00000688158.2:n.1913A>T
ENST00000688922.2:c.*1008A>T ENSP00000508742.2:n.*1008A>T
ENST00000700021.1:c.1133A>T ENSP00000514757.1:p.Asp378Val
ENST00000700022.1:c.*517A>T ENSP00000514758.1:n.*517A>T
ENST00000700023.1:n.2336A>T
ENST00000700024.1:n.2570A>T
ENST00000706954.1:c.1178A>T ENSP00000516674.1:p.Asp393Val
ENST00000706955.1:c.*1213A>T ENSP00000516675.1:n.*1213A>T
ENST00000686459.1:c.*764A>T ENSP00000508909.1:n.*764A>T
ENST00000688158.1:c.*1289A>T ENSP00000509254.1:n.*1289A>T
ENST00000688308.1:c.1178A>T ENSP00000508752.1:p.Asp393Val
ENST00000688922.1:c.1099A>T
ENST00000693560.1:c.1697A>T ENSP00000509861.1:p.Asp566Val
ENST00000371953.8:c.1178A>T MANE Select ENSP00000361021.3:p.Asp393Val
ENST00000371953.7:c.1178A>T ENSP00000361021.3:p.Asp393Val
NM_000314.5:c.1178A>T NP_000305.3:p.Asp393Val
NM_000314.6:c.1178A>T NP_000305.3:p.Asp393Val
NM_001304717.2:c.1697A>T NP_001291646.2:p.Asp566Val
NM_001304718.1:c.587A>T NP_001291647.1:p.Asp196Val
XM_006717926.2:c.1133A>T XP_006717989.1:p.Asp378Val
XM_011539982.1:c.1082A>T XP_011538284.1:p.Asp361Val
XR_945791.1:n.1748A>T
NM_000314.7:c.1178A>T NP_000305.3:p.Asp393Val
NM_001304717.5:c.1697A>T NP_001291646.4:p.Asp566Val
NM_001304718.2:c.587A>T NP_001291647.1:p.Asp196Val
NM_000314.8:c.1178A>T MANE Select NP_000305.3:p.Asp393Val