Canonical Allele Identifier: CA377485829
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961005A>C , CM000672.2:g.87961005A>C GRCh38
NC_000010.10:g.89720762A>C , CM000672.1:g.89720762A>C GRCh37
NC_000010.9:g.89710742A>C NCBI36
NG_007466.2:g.102567A>C , LRG_311:g.102567A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1006A>C ENSP00000514759.2:p.Ser336Arg
ENST00000710265.1:c.913A>C ENSP00000518161.1:p.Ser305Arg
ENST00000472832.3:c.913A>C ENSP00000483066.2:p.Ser305Arg
ENST00000688158.2:n.1648A>C
ENST00000688922.2:c.*743A>C ENSP00000508742.2:n.*743A>C
ENST00000700021.1:c.868A>C ENSP00000514757.1:p.Ser290Arg
ENST00000700022.1:c.*252A>C ENSP00000514758.1:n.*252A>C
ENST00000700023.1:n.2071A>C
ENST00000700024.1:n.2305A>C
ENST00000700025.1:n.1682A>C
ENST00000700026.1:n.550A>C
ENST00000706954.1:c.913A>C ENSP00000516674.1:p.Ser305Arg
ENST00000706955.1:c.*948A>C ENSP00000516675.1:n.*948A>C
ENST00000686459.1:c.*499A>C ENSP00000508909.1:n.*499A>C
ENST00000688158.1:c.*1024A>C ENSP00000509254.1:n.*1024A>C
ENST00000688308.1:c.913A>C ENSP00000508752.1:p.Ser305Arg
ENST00000688922.1:c.834A>C
ENST00000693560.1:c.1432A>C ENSP00000509861.1:p.Ser478Arg
ENST00000371953.8:c.913A>C MANE Select ENSP00000361021.3:p.Ser305Arg
ENST00000371953.7:c.913A>C ENSP00000361021.3:p.Ser305Arg
ENST00000472832.2:c.340A>C ENSP00000483066.1:p.Ser114Arg
NM_000314.5:c.913A>C NP_000305.3:p.Ser305Arg
NM_000314.6:c.913A>C NP_000305.3:p.Ser305Arg
NM_001304717.2:c.1432A>C NP_001291646.2:p.Ser478Arg
NM_001304718.1:c.322A>C NP_001291647.1:p.Ser108Arg
XM_006717926.2:c.868A>C XP_006717989.1:p.Ser290Arg
XM_011539981.1:c.913A>C XP_011538283.1:p.Ser305Arg
XM_011539982.1:c.817A>C XP_011538284.1:p.Ser273Arg
XR_945791.1:n.1483A>C
NM_000314.7:c.913A>C NP_000305.3:p.Ser305Arg
NM_001304717.5:c.1432A>C NP_001291646.4:p.Ser478Arg
NM_001304718.2:c.322A>C NP_001291647.1:p.Ser108Arg
NM_000314.8:c.913A>C MANE Select NP_000305.3:p.Ser305Arg