Canonical Allele Identifier: CA377486042
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs1373782343

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961062G>T , CM000672.2:g.87961062G>T GRCh38
NC_000010.10:g.89720819G>T , CM000672.1:g.89720819G>T GRCh37
NC_000010.9:g.89710799G>T NCBI36
NG_007466.2:g.102624G>T , LRG_311:g.102624G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1063G>T ENSP00000514759.2:p.Asp355Tyr
ENST00000710265.1:c.970G>T ENSP00000518161.1:p.Asp324Tyr
ENST00000472832.3:c.970G>T ENSP00000483066.2:p.Asp324Tyr
ENST00000688158.2:n.1705G>T
ENST00000688922.2:c.*800G>T ENSP00000508742.2:n.*800G>T
ENST00000700021.1:c.925G>T ENSP00000514757.1:p.Asp309Tyr
ENST00000700022.1:c.*309G>T ENSP00000514758.1:n.*309G>T
ENST00000700023.1:n.2128G>T
ENST00000700024.1:n.2362G>T
ENST00000700025.1:n.1739G>T
ENST00000700026.1:n.607G>T
ENST00000706954.1:c.970G>T ENSP00000516674.1:p.Asp324Tyr
ENST00000706955.1:c.*1005G>T ENSP00000516675.1:n.*1005G>T
ENST00000686459.1:c.*556G>T ENSP00000508909.1:n.*556G>T
ENST00000688158.1:c.*1081G>T ENSP00000509254.1:n.*1081G>T
ENST00000688308.1:c.970G>T ENSP00000508752.1:p.Asp324Tyr
ENST00000688922.1:c.891G>T
ENST00000693560.1:c.1489G>T ENSP00000509861.1:p.Asp497Tyr
ENST00000371953.8:c.970G>T MANE Select ENSP00000361021.3:p.Asp324Tyr
ENST00000371953.7:c.970G>T ENSP00000361021.3:p.Asp324Tyr
ENST00000472832.2:c.397G>T ENSP00000483066.1:p.Asp133Tyr
NM_000314.5:c.970G>T NP_000305.3:p.Asp324Tyr
NM_000314.6:c.970G>T NP_000305.3:p.Asp324Tyr
NM_001304717.2:c.1489G>T NP_001291646.2:p.Asp497Tyr
NM_001304718.1:c.379G>T NP_001291647.1:p.Asp127Tyr
XM_006717926.2:c.925G>T XP_006717989.1:p.Asp309Tyr
XM_011539981.1:c.970G>T XP_011538283.1:p.Asp324Tyr
XM_011539982.1:c.874G>T XP_011538284.1:p.Asp292Tyr
XR_945791.1:n.1540G>T
NM_000314.7:c.970G>T NP_000305.3:p.Asp324Tyr
NM_001304717.5:c.1489G>T NP_001291646.4:p.Asp497Tyr
NM_001304718.2:c.379G>T NP_001291647.1:p.Asp127Tyr
NM_000314.8:c.970G>T MANE Select NP_000305.3:p.Asp324Tyr