Canonical Allele Identifier: CA10587096
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 255814
dbSNP Id: rs886038278

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957869C>T , CM000672.2:g.87957869C>T GRCh38
NC_000010.10:g.89717626C>T , CM000672.1:g.89717626C>T GRCh37
NC_000010.9:g.89707606C>T NCBI36
NG_007466.2:g.99431C>T , LRG_311:g.99431C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.651C>T ENSP00000514759.2:p.Val217=
ENST00000710265.1:c.651C>T ENSP00000518161.1:p.Val217=
ENST00000472832.3:c.651C>T ENSP00000483066.2:p.Val217=
ENST00000688158.2:n.1386C>T
ENST00000688922.2:c.*481C>T ENSP00000508742.2:n.*481C>T
ENST00000700021.1:c.606C>T ENSP00000514757.1:p.Val202=
ENST00000700022.1:c.509C>T ENSP00000514758.1:p.Ser170Phe
ENST00000700023.1:n.1809C>T
ENST00000700024.1:n.2043C>T
ENST00000700025.1:n.1420C>T
ENST00000700026.1:n.288C>T
ENST00000700029.1:c.485C>T
ENST00000706954.1:c.651C>T ENSP00000516674.1:p.Val217=
ENST00000706955.1:c.*686C>T ENSP00000516675.1:n.*686C>T
ENST00000686459.1:c.*237C>T ENSP00000508909.1:n.*237C>T
ENST00000688158.1:c.*762C>T ENSP00000509254.1:n.*762C>T
ENST00000688308.1:c.651C>T ENSP00000508752.1:p.Val217=
ENST00000688922.1:c.572C>T
ENST00000693560.1:c.1170C>T ENSP00000509861.1:p.Val390=
ENST00000371953.8:c.651C>T MANE Select ENSP00000361021.3:p.Val217=
ENST00000371953.7:c.651C>T ENSP00000361021.3:p.Val217=
ENST00000472832.2:c.78C>T ENSP00000483066.1:p.Val26=
NM_000314.5:c.651C>T NP_000305.3:p.Val217=
NM_000314.6:c.651C>T NP_000305.3:p.Val217=
NM_001304717.2:c.1170C>T NP_001291646.2:p.Val390=
NM_001304718.1:c.60C>T NP_001291647.1:p.Val20=
XM_006717926.2:c.606C>T XP_006717989.1:p.Val202=
XM_011539981.1:c.651C>T XP_011538283.1:p.Val217=
XM_011539982.1:c.555C>T XP_011538284.1:p.Val185=
XR_945791.1:n.1221C>T
NM_000314.7:c.651C>T NP_000305.3:p.Val217=
NM_001304717.5:c.1170C>T NP_001291646.4:p.Val390=
NM_001304718.2:c.60C>T NP_001291647.1:p.Val20=
NM_000314.8:c.651C>T MANE Select NP_000305.3:p.Val217=