Canonical Allele Identifier: CA377485036
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132277592

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.769T>G ENSP00000514759.2:p.Phe257Val
ENST00000710265.1:c.769T>G ENSP00000518161.1:p.Phe257Val
ENST00000472832.3:c.769T>G ENSP00000483066.2:p.Phe257Val
ENST00000688158.2:n.1504T>G
ENST00000688922.2:c.*599T>G ENSP00000508742.2:n.*599T>G
ENST00000700021.1:c.724T>G ENSP00000514757.1:p.Phe242Val
ENST00000700022.1:c.*108T>G ENSP00000514758.1:n.*108T>G
ENST00000700023.1:n.1927T>G
ENST00000700024.1:n.2161T>G
ENST00000700025.1:n.1538T>G
ENST00000700026.1:n.406T>G
ENST00000700029.1:c.603T>G
ENST00000706954.1:c.769T>G ENSP00000516674.1:p.Phe257Val
ENST00000706955.1:c.*804T>G ENSP00000516675.1:n.*804T>G
ENST00000686459.1:c.*355T>G ENSP00000508909.1:n.*355T>G
ENST00000688158.1:c.*880T>G ENSP00000509254.1:n.*880T>G
ENST00000688308.1:c.769T>G ENSP00000508752.1:p.Phe257Val
ENST00000688922.1:c.690T>G
ENST00000693560.1:c.1288T>G ENSP00000509861.1:p.Phe430Val
ENST00000371953.8:c.769T>G MANE Select ENSP00000361021.3:p.Phe257Val
ENST00000371953.7:c.769T>G ENSP00000361021.3:p.Phe257Val
ENST00000472832.2:c.196T>G ENSP00000483066.1:p.Phe66Val
NM_000314.5:c.769T>G NP_000305.3:p.Phe257Val
NM_000314.6:c.769T>G NP_000305.3:p.Phe257Val
NM_001304717.2:c.1288T>G NP_001291646.2:p.Phe430Val
NM_001304718.1:c.178T>G NP_001291647.1:p.Phe60Val
XM_006717926.2:c.724T>G XP_006717989.1:p.Phe242Val
XM_011539981.1:c.769T>G XP_011538283.1:p.Phe257Val
XM_011539982.1:c.673T>G XP_011538284.1:p.Phe225Val
XR_945791.1:n.1339T>G
NM_000314.7:c.769T>G NP_000305.3:p.Phe257Val
NM_001304717.5:c.1288T>G NP_001291646.4:p.Phe430Val
NM_001304718.2:c.178T>G NP_001291647.1:p.Phe60Val
NM_000314.8:c.769T>G MANE Select NP_000305.3:p.Phe257Val