Canonical Allele Identifier: CA377487249
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965363A>C , CM000672.2:g.87965363A>C GRCh38
NC_000010.10:g.89725120A>C , CM000672.1:g.89725120A>C GRCh37
NC_000010.9:g.89715100A>C NCBI36
NG_007466.2:g.106925A>C , LRG_311:g.106925A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1196A>C ENSP00000514759.2:p.Asp399Ala
ENST00000710265.1:c.*132A>C ENSP00000518161.1:n.*132A>C
ENST00000688158.2:n.1838A>C
ENST00000688922.2:c.*933A>C ENSP00000508742.2:n.*933A>C
ENST00000700021.1:c.1058A>C ENSP00000514757.1:p.Asp353Ala
ENST00000700022.1:c.*442A>C ENSP00000514758.1:n.*442A>C
ENST00000700023.1:n.2261A>C
ENST00000700024.1:n.2495A>C
ENST00000706954.1:c.1103A>C ENSP00000516674.1:p.Asp368Ala
ENST00000706955.1:c.*1138A>C ENSP00000516675.1:n.*1138A>C
ENST00000686459.1:c.*689A>C ENSP00000508909.1:n.*689A>C
ENST00000688158.1:c.*1214A>C ENSP00000509254.1:n.*1214A>C
ENST00000688308.1:c.1103A>C ENSP00000508752.1:p.Asp368Ala
ENST00000688922.1:c.1024A>C
ENST00000693560.1:c.1622A>C ENSP00000509861.1:p.Asp541Ala
ENST00000371953.8:c.1103A>C MANE Select ENSP00000361021.3:p.Asp368Ala
ENST00000371953.7:c.1103A>C ENSP00000361021.3:p.Asp368Ala
NM_000314.5:c.1103A>C NP_000305.3:p.Asp368Ala
NM_000314.6:c.1103A>C NP_000305.3:p.Asp368Ala
NM_001304717.2:c.1622A>C NP_001291646.2:p.Asp541Ala
NM_001304718.1:c.512A>C NP_001291647.1:p.Asp171Ala
XM_006717926.2:c.1058A>C XP_006717989.1:p.Asp353Ala
XM_011539982.1:c.1007A>C XP_011538284.1:p.Asp336Ala
XR_945791.1:n.1673A>C
NM_000314.7:c.1103A>C NP_000305.3:p.Asp368Ala
NM_001304717.5:c.1622A>C NP_001291646.4:p.Asp541Ala
NM_001304718.2:c.512A>C NP_001291647.1:p.Asp171Ala
NM_000314.8:c.1103A>C MANE Select NP_000305.3:p.Asp368Ala