Canonical Allele Identifier: CA377486175
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961116A>C , CM000672.2:g.87961116A>C GRCh38
NC_000010.10:g.89720873A>C , CM000672.1:g.89720873A>C GRCh37
NC_000010.9:g.89710853A>C NCBI36
NG_007466.2:g.102678A>C , LRG_311:g.102678A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1117A>C ENSP00000514759.2:p.Lys373Gln
ENST00000710265.1:c.1024A>C ENSP00000518161.1:p.Lys342Gln
ENST00000472832.3:c.1024A>C ENSP00000483066.2:p.Lys342Gln
ENST00000688158.2:n.1759A>C
ENST00000688922.2:c.*854A>C ENSP00000508742.2:n.*854A>C
ENST00000700021.1:c.979A>C ENSP00000514757.1:p.Lys327Gln
ENST00000700022.1:c.*363A>C ENSP00000514758.1:n.*363A>C
ENST00000700023.1:n.2182A>C
ENST00000700024.1:n.2416A>C
ENST00000700025.1:n.1793A>C
ENST00000700026.1:n.661A>C
ENST00000706954.1:c.1024A>C ENSP00000516674.1:p.Lys342Gln
ENST00000706955.1:c.*1059A>C ENSP00000516675.1:n.*1059A>C
ENST00000686459.1:c.*610A>C ENSP00000508909.1:n.*610A>C
ENST00000688158.1:c.*1135A>C ENSP00000509254.1:n.*1135A>C
ENST00000688308.1:c.1024A>C ENSP00000508752.1:p.Lys342Gln
ENST00000688922.1:c.945A>C
ENST00000693560.1:c.1543A>C ENSP00000509861.1:p.Lys515Gln
ENST00000371953.8:c.1024A>C MANE Select ENSP00000361021.3:p.Lys342Gln
ENST00000371953.7:c.1024A>C ENSP00000361021.3:p.Lys342Gln
ENST00000472832.2:c.451A>C ENSP00000483066.1:p.Lys151Gln
NM_000314.5:c.1024A>C NP_000305.3:p.Lys342Gln
NM_000314.6:c.1024A>C NP_000305.3:p.Lys342Gln
NM_001304717.2:c.1543A>C NP_001291646.2:p.Lys515Gln
NM_001304718.1:c.433A>C NP_001291647.1:p.Lys145Gln
XM_006717926.2:c.979A>C XP_006717989.1:p.Lys327Gln
XM_011539981.1:c.1024A>C XP_011538283.1:p.Lys342Gln
XM_011539982.1:c.928A>C XP_011538284.1:p.Lys310Gln
XR_945791.1:n.1594A>C
NM_000314.7:c.1024A>C NP_000305.3:p.Lys342Gln
NM_001304717.5:c.1543A>C NP_001291646.4:p.Lys515Gln
NM_001304718.2:c.433A>C NP_001291647.1:p.Lys145Gln
NM_000314.8:c.1024A>C MANE Select NP_000305.3:p.Lys342Gln