Canonical Allele Identifier: CA377487418
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965434T>G , CM000672.2:g.87965434T>G GRCh38
NC_000010.10:g.89725191T>G , CM000672.1:g.89725191T>G GRCh37
NC_000010.9:g.89715171T>G NCBI36
NG_007466.2:g.106996T>G , LRG_311:g.106996T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1267T>G ENSP00000514759.2:p.Phe423Val
ENST00000710265.1:c.*203T>G ENSP00000518161.1:n.*203T>G
ENST00000688158.2:n.1909T>G
ENST00000688922.2:c.*1004T>G ENSP00000508742.2:n.*1004T>G
ENST00000700021.1:c.1129T>G ENSP00000514757.1:p.Phe377Val
ENST00000700022.1:c.*513T>G ENSP00000514758.1:n.*513T>G
ENST00000700023.1:n.2332T>G
ENST00000700024.1:n.2566T>G
ENST00000706954.1:c.1174T>G ENSP00000516674.1:p.Phe392Val
ENST00000706955.1:c.*1209T>G ENSP00000516675.1:n.*1209T>G
ENST00000686459.1:c.*760T>G ENSP00000508909.1:n.*760T>G
ENST00000688158.1:c.*1285T>G ENSP00000509254.1:n.*1285T>G
ENST00000688308.1:c.1174T>G ENSP00000508752.1:p.Phe392Val
ENST00000688922.1:c.1095T>G
ENST00000693560.1:c.1693T>G ENSP00000509861.1:p.Phe565Val
ENST00000371953.8:c.1174T>G MANE Select ENSP00000361021.3:p.Phe392Val
ENST00000371953.7:c.1174T>G ENSP00000361021.3:p.Phe392Val
NM_000314.5:c.1174T>G NP_000305.3:p.Phe392Val
NM_000314.6:c.1174T>G NP_000305.3:p.Phe392Val
NM_001304717.2:c.1693T>G NP_001291646.2:p.Phe565Val
NM_001304718.1:c.583T>G NP_001291647.1:p.Phe195Val
XM_006717926.2:c.1129T>G XP_006717989.1:p.Phe377Val
XM_011539982.1:c.1078T>G XP_011538284.1:p.Phe360Val
XR_945791.1:n.1744T>G
NM_000314.7:c.1174T>G NP_000305.3:p.Phe392Val
NM_001304717.5:c.1693T>G NP_001291646.4:p.Phe565Val
NM_001304718.2:c.583T>G NP_001291647.1:p.Phe195Val
NM_000314.8:c.1174T>G MANE Select NP_000305.3:p.Phe392Val