Canonical Allele Identifier: CA377486128
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 548724
ClinVar RCV Id: RCV000662439
dbSNP Id: rs1085308040

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961096G>T , CM000672.2:g.87961096G>T GRCh38
NC_000010.10:g.89720853G>T , CM000672.1:g.89720853G>T GRCh37
NC_000010.9:g.89710833G>T NCBI36
NG_007466.2:g.102658G>T , LRG_311:g.102658G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.1097G>T ENSP00000514759.2:p.Arg366Leu
ENST00000710265.1:c.1004G>T ENSP00000518161.1:p.Arg335Leu
ENST00000472832.3:c.1004G>T ENSP00000483066.2:p.Arg335Leu
ENST00000688158.2:n.1739G>T
ENST00000688922.2:c.*834G>T ENSP00000508742.2:n.*834G>T
ENST00000700021.1:c.959G>T ENSP00000514757.1:p.Arg320Leu
ENST00000700022.1:c.*343G>T ENSP00000514758.1:n.*343G>T
ENST00000700023.1:n.2162G>T
ENST00000700024.1:n.2396G>T
ENST00000700025.1:n.1773G>T
ENST00000700026.1:n.641G>T
ENST00000706954.1:c.1004G>T ENSP00000516674.1:p.Arg335Leu
ENST00000706955.1:c.*1039G>T ENSP00000516675.1:n.*1039G>T
ENST00000686459.1:c.*590G>T ENSP00000508909.1:n.*590G>T
ENST00000688158.1:c.*1115G>T ENSP00000509254.1:n.*1115G>T
ENST00000688308.1:c.1004G>T ENSP00000508752.1:p.Arg335Leu
ENST00000688922.1:c.925G>T
ENST00000693560.1:c.1523G>T ENSP00000509861.1:p.Arg508Leu
ENST00000371953.8:c.1004G>T MANE Select ENSP00000361021.3:p.Arg335Leu
ENST00000371953.7:c.1004G>T ENSP00000361021.3:p.Arg335Leu
ENST00000472832.2:c.431G>T ENSP00000483066.1:p.Arg144Leu
NM_000314.5:c.1004G>T NP_000305.3:p.Arg335Leu
NM_000314.6:c.1004G>T NP_000305.3:p.Arg335Leu
NM_001304717.2:c.1523G>T NP_001291646.2:p.Arg508Leu
NM_001304718.1:c.413G>T NP_001291647.1:p.Arg138Leu
XM_006717926.2:c.959G>T XP_006717989.1:p.Arg320Leu
XM_011539981.1:c.1004G>T XP_011538283.1:p.Arg335Leu
XM_011539982.1:c.908G>T XP_011538284.1:p.Arg303Leu
XR_945791.1:n.1574G>T
NM_000314.7:c.1004G>T NP_000305.3:p.Arg335Leu
NM_001304717.5:c.1523G>T NP_001291646.4:p.Arg508Leu
NM_001304718.2:c.413G>T NP_001291647.1:p.Arg138Leu
NM_000314.8:c.1004G>T MANE Select NP_000305.3:p.Arg335Leu