Canonical Allele Identifier: CA377485034
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132277592

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957987T>A , CM000672.2:g.87957987T>A GRCh38
NC_000010.10:g.89717744T>A , CM000672.1:g.89717744T>A GRCh37
NC_000010.9:g.89707724T>A NCBI36
NG_007466.2:g.99549T>A , LRG_311:g.99549T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.769T>A ENSP00000514759.2:p.Phe257Ile
ENST00000710265.1:c.769T>A ENSP00000518161.1:p.Phe257Ile
ENST00000472832.3:c.769T>A ENSP00000483066.2:p.Phe257Ile
ENST00000688158.2:n.1504T>A
ENST00000688922.2:c.*599T>A ENSP00000508742.2:n.*599T>A
ENST00000700021.1:c.724T>A ENSP00000514757.1:p.Phe242Ile
ENST00000700022.1:c.*108T>A ENSP00000514758.1:n.*108T>A
ENST00000700023.1:n.1927T>A
ENST00000700024.1:n.2161T>A
ENST00000700025.1:n.1538T>A
ENST00000700026.1:n.406T>A
ENST00000700029.1:c.603T>A
ENST00000706954.1:c.769T>A ENSP00000516674.1:p.Phe257Ile
ENST00000706955.1:c.*804T>A ENSP00000516675.1:n.*804T>A
ENST00000686459.1:c.*355T>A ENSP00000508909.1:n.*355T>A
ENST00000688158.1:c.*880T>A ENSP00000509254.1:n.*880T>A
ENST00000688308.1:c.769T>A ENSP00000508752.1:p.Phe257Ile
ENST00000688922.1:c.690T>A
ENST00000693560.1:c.1288T>A ENSP00000509861.1:p.Phe430Ile
ENST00000371953.8:c.769T>A MANE Select ENSP00000361021.3:p.Phe257Ile
ENST00000371953.7:c.769T>A ENSP00000361021.3:p.Phe257Ile
ENST00000472832.2:c.196T>A ENSP00000483066.1:p.Phe66Ile
NM_000314.5:c.769T>A NP_000305.3:p.Phe257Ile
NM_000314.6:c.769T>A NP_000305.3:p.Phe257Ile
NM_001304717.2:c.1288T>A NP_001291646.2:p.Phe430Ile
NM_001304718.1:c.178T>A NP_001291647.1:p.Phe60Ile
XM_006717926.2:c.724T>A XP_006717989.1:p.Phe242Ile
XM_011539981.1:c.769T>A XP_011538283.1:p.Phe257Ile
XM_011539982.1:c.673T>A XP_011538284.1:p.Phe225Ile
XR_945791.1:n.1339T>A
NM_000314.7:c.769T>A NP_000305.3:p.Phe257Ile
NM_001304717.5:c.1288T>A NP_001291646.4:p.Phe430Ile
NM_001304718.2:c.178T>A NP_001291647.1:p.Phe60Ile
NM_000314.8:c.769T>A MANE Select NP_000305.3:p.Phe257Ile