Canonical Allele Identifier: CA377485112
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 468716
dbSNP Id: rs1554825264

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.800A>G ENSP00000514759.2:p.Lys267Arg
ENST00000710265.1:c.800A>G ENSP00000518161.1:p.Lys267Arg
ENST00000472832.3:c.800A>G ENSP00000483066.2:p.Lys267Arg
ENST00000688158.2:n.1535A>G
ENST00000688922.2:c.*630A>G ENSP00000508742.2:n.*630A>G
ENST00000700021.1:c.755A>G ENSP00000514757.1:p.Lys252Arg
ENST00000700022.1:c.*139A>G ENSP00000514758.1:n.*139A>G
ENST00000700023.1:n.1958A>G
ENST00000700024.1:n.2192A>G
ENST00000700025.1:n.1569A>G
ENST00000700026.1:n.437A>G
ENST00000700029.1:c.634A>G
ENST00000706954.1:c.800A>G ENSP00000516674.1:p.Lys267Arg
ENST00000706955.1:c.*835A>G ENSP00000516675.1:n.*835A>G
ENST00000686459.1:c.*386A>G ENSP00000508909.1:n.*386A>G
ENST00000688158.1:c.*911A>G ENSP00000509254.1:n.*911A>G
ENST00000688308.1:c.800A>G ENSP00000508752.1:p.Lys267Arg
ENST00000688922.1:c.721A>G
ENST00000693560.1:c.1319A>G ENSP00000509861.1:p.Lys440Arg
ENST00000371953.8:c.800A>G MANE Select ENSP00000361021.3:p.Lys267Arg
ENST00000371953.7:c.800A>G ENSP00000361021.3:p.Lys267Arg
ENST00000472832.2:c.227A>G ENSP00000483066.1:p.Lys76Arg
NM_000314.5:c.800A>G NP_000305.3:p.Lys267Arg
NM_000314.6:c.800A>G NP_000305.3:p.Lys267Arg
NM_001304717.2:c.1319A>G NP_001291646.2:p.Lys440Arg
NM_001304718.1:c.209A>G NP_001291647.1:p.Lys70Arg
XM_006717926.2:c.755A>G XP_006717989.1:p.Lys252Arg
XM_011539981.1:c.800A>G XP_011538283.1:p.Lys267Arg
XM_011539982.1:c.704A>G XP_011538284.1:p.Lys235Arg
XR_945791.1:n.1370A>G
NM_000314.7:c.800A>G NP_000305.3:p.Lys267Arg
NM_001304717.5:c.1319A>G NP_001291646.4:p.Lys440Arg
NM_001304718.2:c.209A>G NP_001291647.1:p.Lys70Arg
NM_000314.8:c.800A>G MANE Select NP_000305.3:p.Lys267Arg