Canonical Allele Identifier: CA377485023
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957981G>T , CM000672.2:g.87957981G>T GRCh38
NC_000010.10:g.89717738G>T , CM000672.1:g.89717738G>T GRCh37
NC_000010.9:g.89707718G>T NCBI36
NG_007466.2:g.99543G>T , LRG_311:g.99543G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.763G>T ENSP00000514759.2:p.Val255Leu
ENST00000710265.1:c.763G>T ENSP00000518161.1:p.Val255Leu
ENST00000472832.3:c.763G>T ENSP00000483066.2:p.Val255Leu
ENST00000688158.2:n.1498G>T
ENST00000688922.2:c.*593G>T ENSP00000508742.2:n.*593G>T
ENST00000700021.1:c.718G>T ENSP00000514757.1:p.Val240Leu
ENST00000700022.1:c.*102G>T ENSP00000514758.1:n.*102G>T
ENST00000700023.1:n.1921G>T
ENST00000700024.1:n.2155G>T
ENST00000700025.1:n.1532G>T
ENST00000700026.1:n.400G>T
ENST00000700029.1:c.597G>T
ENST00000706954.1:c.763G>T ENSP00000516674.1:p.Val255Leu
ENST00000706955.1:c.*798G>T ENSP00000516675.1:n.*798G>T
ENST00000686459.1:c.*349G>T ENSP00000508909.1:n.*349G>T
ENST00000688158.1:c.*874G>T ENSP00000509254.1:n.*874G>T
ENST00000688308.1:c.763G>T ENSP00000508752.1:p.Val255Leu
ENST00000688922.1:c.684G>T
ENST00000693560.1:c.1282G>T ENSP00000509861.1:p.Val428Leu
ENST00000371953.8:c.763G>T MANE Select ENSP00000361021.3:p.Val255Leu
ENST00000371953.7:c.763G>T ENSP00000361021.3:p.Val255Leu
ENST00000472832.2:c.190G>T ENSP00000483066.1:p.Val64Leu
NM_000314.5:c.763G>T NP_000305.3:p.Val255Leu
NM_000314.6:c.763G>T NP_000305.3:p.Val255Leu
NM_001304717.2:c.1282G>T NP_001291646.2:p.Val428Leu
NM_001304718.1:c.172G>T NP_001291647.1:p.Val58Leu
XM_006717926.2:c.718G>T XP_006717989.1:p.Val240Leu
XM_011539981.1:c.763G>T XP_011538283.1:p.Val255Leu
XM_011539982.1:c.667G>T XP_011538284.1:p.Val223Leu
XR_945791.1:n.1333G>T
NM_000314.7:c.763G>T NP_000305.3:p.Val255Leu
NM_001304717.5:c.1282G>T NP_001291646.4:p.Val428Leu
NM_001304718.2:c.172G>T NP_001291647.1:p.Val58Leu
NM_000314.8:c.763G>T MANE Select NP_000305.3:p.Val255Leu