Canonical Allele Identifier: CA377487387
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132290139

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965422G>A , CM000672.2:g.87965422G>A GRCh38
NC_000010.10:g.89725179G>A , CM000672.1:g.89725179G>A GRCh37
NC_000010.9:g.89715159G>A NCBI36
NG_007466.2:g.106984G>A , LRG_311:g.106984G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1255G>A ENSP00000514759.2:p.Glu419Lys
ENST00000710265.1:c.*191G>A ENSP00000518161.1:n.*191G>A
ENST00000688158.2:n.1897G>A
ENST00000688922.2:c.*992G>A ENSP00000508742.2:n.*992G>A
ENST00000700021.1:c.1117G>A ENSP00000514757.1:p.Glu373Lys
ENST00000700022.1:c.*501G>A ENSP00000514758.1:n.*501G>A
ENST00000700023.1:n.2320G>A
ENST00000700024.1:n.2554G>A
ENST00000706954.1:c.1162G>A ENSP00000516674.1:p.Glu388Lys
ENST00000706955.1:c.*1197G>A ENSP00000516675.1:n.*1197G>A
ENST00000686459.1:c.*748G>A ENSP00000508909.1:n.*748G>A
ENST00000688158.1:c.*1273G>A ENSP00000509254.1:n.*1273G>A
ENST00000688308.1:c.1162G>A ENSP00000508752.1:p.Glu388Lys
ENST00000688922.1:c.1083G>A
ENST00000693560.1:c.1681G>A ENSP00000509861.1:p.Glu561Lys
ENST00000371953.8:c.1162G>A MANE Select ENSP00000361021.3:p.Glu388Lys
ENST00000371953.7:c.1162G>A ENSP00000361021.3:p.Glu388Lys
NM_000314.5:c.1162G>A NP_000305.3:p.Glu388Lys
NM_000314.6:c.1162G>A NP_000305.3:p.Glu388Lys
NM_001304717.2:c.1681G>A NP_001291646.2:p.Glu561Lys
NM_001304718.1:c.571G>A NP_001291647.1:p.Glu191Lys
XM_006717926.2:c.1117G>A XP_006717989.1:p.Glu373Lys
XM_011539982.1:c.1066G>A XP_011538284.1:p.Glu356Lys
XR_945791.1:n.1732G>A
NM_000314.7:c.1162G>A NP_000305.3:p.Glu388Lys
NM_001304717.5:c.1681G>A NP_001291646.4:p.Glu561Lys
NM_001304718.2:c.571G>A NP_001291647.1:p.Glu191Lys
NM_000314.8:c.1162G>A MANE Select NP_000305.3:p.Glu388Lys