Canonical Allele Identifier: CA377487298
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965384A>C , CM000672.2:g.87965384A>C GRCh38
NC_000010.10:g.89725141A>C , CM000672.1:g.89725141A>C GRCh37
NC_000010.9:g.89715121A>C NCBI36
NG_007466.2:g.106946A>C , LRG_311:g.106946A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1217A>C ENSP00000514759.2:p.Asp406Ala
ENST00000710265.1:c.*153A>C ENSP00000518161.1:n.*153A>C
ENST00000688158.2:n.1859A>C
ENST00000688922.2:c.*954A>C ENSP00000508742.2:n.*954A>C
ENST00000700021.1:c.1079A>C ENSP00000514757.1:p.Asp360Ala
ENST00000700022.1:c.*463A>C ENSP00000514758.1:n.*463A>C
ENST00000700023.1:n.2282A>C
ENST00000700024.1:n.2516A>C
ENST00000706954.1:c.1124A>C ENSP00000516674.1:p.Asp375Ala
ENST00000706955.1:c.*1159A>C ENSP00000516675.1:n.*1159A>C
ENST00000686459.1:c.*710A>C ENSP00000508909.1:n.*710A>C
ENST00000688158.1:c.*1235A>C ENSP00000509254.1:n.*1235A>C
ENST00000688308.1:c.1124A>C ENSP00000508752.1:p.Asp375Ala
ENST00000688922.1:c.1045A>C
ENST00000693560.1:c.1643A>C ENSP00000509861.1:p.Asp548Ala
ENST00000371953.8:c.1124A>C MANE Select ENSP00000361021.3:p.Asp375Ala
ENST00000371953.7:c.1124A>C ENSP00000361021.3:p.Asp375Ala
NM_000314.5:c.1124A>C NP_000305.3:p.Asp375Ala
NM_000314.6:c.1124A>C NP_000305.3:p.Asp375Ala
NM_001304717.2:c.1643A>C NP_001291646.2:p.Asp548Ala
NM_001304718.1:c.533A>C NP_001291647.1:p.Asp178Ala
XM_006717926.2:c.1079A>C XP_006717989.1:p.Asp360Ala
XM_011539982.1:c.1028A>C XP_011538284.1:p.Asp343Ala
XR_945791.1:n.1694A>C
NM_000314.7:c.1124A>C NP_000305.3:p.Asp375Ala
NM_001304717.5:c.1643A>C NP_001291646.4:p.Asp548Ala
NM_001304718.2:c.533A>C NP_001291647.1:p.Asp178Ala
NM_000314.8:c.1124A>C MANE Select NP_000305.3:p.Asp375Ala