Canonical Allele Identifier: CA377486016
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1767686
ClinVar RCV Id: RCV002385387

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961057A>G , CM000672.2:g.87961057A>G GRCh38
NC_000010.10:g.89720814A>G , CM000672.1:g.89720814A>G GRCh37
NC_000010.9:g.89710794A>G NCBI36
NG_007466.2:g.102619A>G , LRG_311:g.102619A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1058A>G ENSP00000514759.2:p.Lys353Arg
ENST00000710265.1:c.965A>G ENSP00000518161.1:p.Lys322Arg
ENST00000472832.3:c.965A>G ENSP00000483066.2:p.Lys322Arg
ENST00000688158.2:n.1700A>G
ENST00000688922.2:c.*795A>G ENSP00000508742.2:n.*795A>G
ENST00000700021.1:c.920A>G ENSP00000514757.1:p.Lys307Arg
ENST00000700022.1:c.*304A>G ENSP00000514758.1:n.*304A>G
ENST00000700023.1:n.2123A>G
ENST00000700024.1:n.2357A>G
ENST00000700025.1:n.1734A>G
ENST00000700026.1:n.602A>G
ENST00000706954.1:c.965A>G ENSP00000516674.1:p.Lys322Arg
ENST00000706955.1:c.*1000A>G ENSP00000516675.1:n.*1000A>G
ENST00000686459.1:c.*551A>G ENSP00000508909.1:n.*551A>G
ENST00000688158.1:c.*1076A>G ENSP00000509254.1:n.*1076A>G
ENST00000688308.1:c.965A>G ENSP00000508752.1:p.Lys322Arg
ENST00000688922.1:c.886A>G
ENST00000693560.1:c.1484A>G ENSP00000509861.1:p.Lys495Arg
ENST00000371953.8:c.965A>G MANE Select ENSP00000361021.3:p.Lys322Arg
ENST00000371953.7:c.965A>G ENSP00000361021.3:p.Lys322Arg
ENST00000472832.2:c.392A>G ENSP00000483066.1:p.Lys131Arg
NM_000314.5:c.965A>G NP_000305.3:p.Lys322Arg
NM_000314.6:c.965A>G NP_000305.3:p.Lys322Arg
NM_001304717.2:c.1484A>G NP_001291646.2:p.Lys495Arg
NM_001304718.1:c.374A>G NP_001291647.1:p.Lys125Arg
XM_006717926.2:c.920A>G XP_006717989.1:p.Lys307Arg
XM_011539981.1:c.965A>G XP_011538283.1:p.Lys322Arg
XM_011539982.1:c.869A>G XP_011538284.1:p.Lys290Arg
XR_945791.1:n.1535A>G
NM_000314.7:c.965A>G NP_000305.3:p.Lys322Arg
NM_001304717.5:c.1484A>G NP_001291646.4:p.Lys495Arg
NM_001304718.2:c.374A>G NP_001291647.1:p.Lys125Arg
NM_000314.8:c.965A>G MANE Select NP_000305.3:p.Lys322Arg