Canonical Allele Identifier: CA377485648
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 428198
dbSNP Id: rs562015640

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960957A>T , CM000672.2:g.87960957A>T GRCh38
NC_000010.10:g.89720714A>T , CM000672.1:g.89720714A>T GRCh37
NC_000010.9:g.89710694A>T NCBI36
NG_007466.2:g.102519A>T , LRG_311:g.102519A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.958A>T ENSP00000514759.2:p.Lys320Ter
ENST00000710265.1:c.865A>T ENSP00000518161.1:p.Lys289Ter
ENST00000472832.3:c.865A>T ENSP00000483066.2:p.Lys289Ter
ENST00000688158.2:n.1600A>T
ENST00000688922.2:c.*695A>T ENSP00000508742.2:n.*695A>T
ENST00000700021.1:c.820A>T ENSP00000514757.1:p.Lys274Ter
ENST00000700022.1:c.*204A>T ENSP00000514758.1:n.*204A>T
ENST00000700023.1:n.2023A>T
ENST00000700024.1:n.2257A>T
ENST00000700025.1:n.1634A>T
ENST00000700026.1:n.502A>T
ENST00000700029.1:c.792A>T
ENST00000706954.1:c.865A>T ENSP00000516674.1:p.Lys289Ter
ENST00000706955.1:c.*900A>T ENSP00000516675.1:n.*900A>T
ENST00000686459.1:c.*451A>T ENSP00000508909.1:n.*451A>T
ENST00000688158.1:c.*976A>T ENSP00000509254.1:n.*976A>T
ENST00000688308.1:c.865A>T ENSP00000508752.1:p.Lys289Ter
ENST00000688922.1:c.786A>T
ENST00000693560.1:c.1384A>T ENSP00000509861.1:p.Lys462Ter
ENST00000371953.8:c.865A>T MANE Select ENSP00000361021.3:p.Lys289Ter
ENST00000371953.7:c.865A>T ENSP00000361021.3:p.Lys289Ter
ENST00000472832.2:c.292A>T ENSP00000483066.1:p.Lys98Ter
NM_000314.5:c.865A>T NP_000305.3:p.Lys289Ter
NM_000314.6:c.865A>T NP_000305.3:p.Lys289Ter
NM_001304717.2:c.1384A>T NP_001291646.2:p.Lys462Ter
NM_001304718.1:c.274A>T NP_001291647.1:p.Lys92Ter
XM_006717926.2:c.820A>T XP_006717989.1:p.Lys274Ter
XM_011539981.1:c.865A>T XP_011538283.1:p.Lys289Ter
XM_011539982.1:c.769A>T XP_011538284.1:p.Lys257Ter
XR_945791.1:n.1435A>T
NM_000314.7:c.865A>T NP_000305.3:p.Lys289Ter
NM_001304717.5:c.1384A>T NP_001291646.4:p.Lys462Ter
NM_001304718.2:c.274A>T NP_001291647.1:p.Lys92Ter
NM_000314.8:c.865A>T MANE Select NP_000305.3:p.Lys289Ter