Canonical Allele Identifier: CA377487446
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132290260

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965445T>A , CM000672.2:g.87965445T>A GRCh38
NC_000010.10:g.89725202T>A , CM000672.1:g.89725202T>A GRCh37
NC_000010.9:g.89715182T>A NCBI36
NG_007466.2:g.107007T>A , LRG_311:g.107007T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1278T>A ENSP00000514759.2:p.Asp426Glu
ENST00000710265.1:c.*214T>A ENSP00000518161.1:n.*214T>A
ENST00000688158.2:n.1920T>A
ENST00000688922.2:c.*1015T>A ENSP00000508742.2:n.*1015T>A
ENST00000700021.1:c.1140T>A ENSP00000514757.1:p.Asp380Glu
ENST00000700022.1:c.*524T>A ENSP00000514758.1:n.*524T>A
ENST00000700023.1:n.2343T>A
ENST00000700024.1:n.2577T>A
ENST00000706954.1:c.1185T>A ENSP00000516674.1:p.Asp395Glu
ENST00000706955.1:c.*1220T>A ENSP00000516675.1:n.*1220T>A
ENST00000686459.1:c.*771T>A ENSP00000508909.1:n.*771T>A
ENST00000688158.1:c.*1296T>A ENSP00000509254.1:n.*1296T>A
ENST00000688308.1:c.1185T>A ENSP00000508752.1:p.Asp395Glu
ENST00000688922.1:c.1106T>A
ENST00000693560.1:c.1704T>A ENSP00000509861.1:p.Asp568Glu
ENST00000371953.8:c.1185T>A MANE Select ENSP00000361021.3:p.Asp395Glu
ENST00000371953.7:c.1185T>A ENSP00000361021.3:p.Asp395Glu
NM_000314.5:c.1185T>A NP_000305.3:p.Asp395Glu
NM_000314.6:c.1185T>A NP_000305.3:p.Asp395Glu
NM_001304717.2:c.1704T>A NP_001291646.2:p.Asp568Glu
NM_001304718.1:c.594T>A NP_001291647.1:p.Asp198Glu
XM_006717926.2:c.1140T>A XP_006717989.1:p.Asp380Glu
XM_011539982.1:c.1089T>A XP_011538284.1:p.Asp363Glu
XR_945791.1:n.1755T>A
NM_000314.7:c.1185T>A NP_000305.3:p.Asp395Glu
NM_001304717.5:c.1704T>A NP_001291646.4:p.Asp568Glu
NM_001304718.2:c.594T>A NP_001291647.1:p.Asp198Glu
NM_000314.8:c.1185T>A MANE Select NP_000305.3:p.Asp395Glu