Canonical Allele Identifier: CA377485111
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1518655
ClinVar RCV Id: RCV002024023
dbSNP Id: rs1554825264

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958018A>C , CM000672.2:g.87958018A>C GRCh38
NC_000010.10:g.89717775A>C , CM000672.1:g.89717775A>C GRCh37
NC_000010.9:g.89707755A>C NCBI36
NG_007466.2:g.99580A>C , LRG_311:g.99580A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.800A>C ENSP00000514759.2:p.Lys267Thr
ENST00000710265.1:c.800A>C ENSP00000518161.1:p.Lys267Thr
ENST00000472832.3:c.800A>C ENSP00000483066.2:p.Lys267Thr
ENST00000688158.2:n.1535A>C
ENST00000688922.2:c.*630A>C ENSP00000508742.2:n.*630A>C
ENST00000700021.1:c.755A>C ENSP00000514757.1:p.Lys252Thr
ENST00000700022.1:c.*139A>C ENSP00000514758.1:n.*139A>C
ENST00000700023.1:n.1958A>C
ENST00000700024.1:n.2192A>C
ENST00000700025.1:n.1569A>C
ENST00000700026.1:n.437A>C
ENST00000700029.1:c.634A>C
ENST00000706954.1:c.800A>C ENSP00000516674.1:p.Lys267Thr
ENST00000706955.1:c.*835A>C ENSP00000516675.1:n.*835A>C
ENST00000686459.1:c.*386A>C ENSP00000508909.1:n.*386A>C
ENST00000688158.1:c.*911A>C ENSP00000509254.1:n.*911A>C
ENST00000688308.1:c.800A>C ENSP00000508752.1:p.Lys267Thr
ENST00000688922.1:c.721A>C
ENST00000693560.1:c.1319A>C ENSP00000509861.1:p.Lys440Thr
ENST00000371953.8:c.800A>C MANE Select ENSP00000361021.3:p.Lys267Thr
ENST00000371953.7:c.800A>C ENSP00000361021.3:p.Lys267Thr
ENST00000472832.2:c.227A>C ENSP00000483066.1:p.Lys76Thr
NM_000314.5:c.800A>C NP_000305.3:p.Lys267Thr
NM_000314.6:c.800A>C NP_000305.3:p.Lys267Thr
NM_001304717.2:c.1319A>C NP_001291646.2:p.Lys440Thr
NM_001304718.1:c.209A>C NP_001291647.1:p.Lys70Thr
XM_006717926.2:c.755A>C XP_006717989.1:p.Lys252Thr
XM_011539981.1:c.800A>C XP_011538283.1:p.Lys267Thr
XM_011539982.1:c.704A>C XP_011538284.1:p.Lys235Thr
XR_945791.1:n.1370A>C
NM_000314.7:c.800A>C NP_000305.3:p.Lys267Thr
NM_001304717.5:c.1319A>C NP_001291646.4:p.Lys440Thr
NM_001304718.2:c.209A>C NP_001291647.1:p.Lys70Thr
NM_000314.8:c.800A>C MANE Select NP_000305.3:p.Lys267Thr