Canonical Allele Identifier: CA377484818
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 427591
dbSNP Id: rs1085308049

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957885A>T , CM000672.2:g.87957885A>T GRCh38
NC_000010.10:g.89717642A>T , CM000672.1:g.89717642A>T GRCh37
NC_000010.9:g.89707622A>T NCBI36
NG_007466.2:g.99447A>T , LRG_311:g.99447A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.667A>T ENSP00000514759.2:p.Lys223Ter
ENST00000710265.1:c.667A>T ENSP00000518161.1:p.Lys223Ter
ENST00000472832.3:c.667A>T ENSP00000483066.2:p.Lys223Ter
ENST00000688158.2:n.1402A>T
ENST00000688922.2:c.*497A>T ENSP00000508742.2:n.*497A>T
ENST00000700021.1:c.622A>T ENSP00000514757.1:p.Lys208Ter
ENST00000700022.1:c.*6A>T ENSP00000514758.1:n.*6A>T
ENST00000700023.1:n.1825A>T
ENST00000700024.1:n.2059A>T
ENST00000700025.1:n.1436A>T
ENST00000700026.1:n.304A>T
ENST00000700029.1:c.501A>T
ENST00000706954.1:c.667A>T ENSP00000516674.1:p.Lys223Ter
ENST00000706955.1:c.*702A>T ENSP00000516675.1:n.*702A>T
ENST00000686459.1:c.*253A>T ENSP00000508909.1:n.*253A>T
ENST00000688158.1:c.*778A>T ENSP00000509254.1:n.*778A>T
ENST00000688308.1:c.667A>T ENSP00000508752.1:p.Lys223Ter
ENST00000688922.1:c.588A>T
ENST00000693560.1:c.1186A>T ENSP00000509861.1:p.Lys396Ter
ENST00000371953.8:c.667A>T MANE Select ENSP00000361021.3:p.Lys223Ter
ENST00000371953.7:c.667A>T ENSP00000361021.3:p.Lys223Ter
ENST00000472832.2:c.94A>T ENSP00000483066.1:p.Lys32Ter
NM_000314.5:c.667A>T NP_000305.3:p.Lys223Ter
NM_000314.6:c.667A>T NP_000305.3:p.Lys223Ter
NM_001304717.2:c.1186A>T NP_001291646.2:p.Lys396Ter
NM_001304718.1:c.76A>T NP_001291647.1:p.Lys26Ter
XM_006717926.2:c.622A>T XP_006717989.1:p.Lys208Ter
XM_011539981.1:c.667A>T XP_011538283.1:p.Lys223Ter
XM_011539982.1:c.571A>T XP_011538284.1:p.Lys191Ter
XR_945791.1:n.1237A>T
NM_000314.7:c.667A>T NP_000305.3:p.Lys223Ter
NM_001304717.5:c.1186A>T NP_001291646.4:p.Lys396Ter
NM_001304718.2:c.76A>T NP_001291647.1:p.Lys26Ter
NM_000314.8:c.667A>T MANE Select NP_000305.3:p.Lys223Ter