Canonical Allele Identifier: CA377487267
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132289759

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965371G>T , CM000672.2:g.87965371G>T GRCh38
NC_000010.10:g.89725128G>T , CM000672.1:g.89725128G>T GRCh37
NC_000010.9:g.89715108G>T NCBI36
NG_007466.2:g.106933G>T , LRG_311:g.106933G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1204G>T ENSP00000514759.2:p.Asp402Tyr
ENST00000710265.1:c.*140G>T ENSP00000518161.1:n.*140G>T
ENST00000688158.2:n.1846G>T
ENST00000688922.2:c.*941G>T ENSP00000508742.2:n.*941G>T
ENST00000700021.1:c.1066G>T ENSP00000514757.1:p.Asp356Tyr
ENST00000700022.1:c.*450G>T ENSP00000514758.1:n.*450G>T
ENST00000700023.1:n.2269G>T
ENST00000700024.1:n.2503G>T
ENST00000706954.1:c.1111G>T ENSP00000516674.1:p.Asp371Tyr
ENST00000706955.1:c.*1146G>T ENSP00000516675.1:n.*1146G>T
ENST00000686459.1:c.*697G>T ENSP00000508909.1:n.*697G>T
ENST00000688158.1:c.*1222G>T ENSP00000509254.1:n.*1222G>T
ENST00000688308.1:c.1111G>T ENSP00000508752.1:p.Asp371Tyr
ENST00000688922.1:c.1032G>T
ENST00000693560.1:c.1630G>T ENSP00000509861.1:p.Asp544Tyr
ENST00000371953.8:c.1111G>T MANE Select ENSP00000361021.3:p.Asp371Tyr
ENST00000371953.7:c.1111G>T ENSP00000361021.3:p.Asp371Tyr
NM_000314.5:c.1111G>T NP_000305.3:p.Asp371Tyr
NM_000314.6:c.1111G>T NP_000305.3:p.Asp371Tyr
NM_001304717.2:c.1630G>T NP_001291646.2:p.Asp544Tyr
NM_001304718.1:c.520G>T NP_001291647.1:p.Asp174Tyr
XM_006717926.2:c.1066G>T XP_006717989.1:p.Asp356Tyr
XM_011539982.1:c.1015G>T XP_011538284.1:p.Asp339Tyr
XR_945791.1:n.1681G>T
NM_000314.7:c.1111G>T NP_000305.3:p.Asp371Tyr
NM_001304717.5:c.1630G>T NP_001291646.4:p.Asp544Tyr
NM_001304718.2:c.520G>T NP_001291647.1:p.Asp174Tyr
NM_000314.8:c.1111G>T MANE Select NP_000305.3:p.Asp371Tyr