Canonical Allele Identifier: CA377487284
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965378A>C , CM000672.2:g.87965378A>C GRCh38
NC_000010.10:g.89725135A>C , CM000672.1:g.89725135A>C GRCh37
NC_000010.9:g.89715115A>C NCBI36
NG_007466.2:g.106940A>C , LRG_311:g.106940A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1211A>C ENSP00000514759.2:p.Glu404Ala
ENST00000710265.1:c.*147A>C ENSP00000518161.1:n.*147A>C
ENST00000688158.2:n.1853A>C
ENST00000688922.2:c.*948A>C ENSP00000508742.2:n.*948A>C
ENST00000700021.1:c.1073A>C ENSP00000514757.1:p.Glu358Ala
ENST00000700022.1:c.*457A>C ENSP00000514758.1:n.*457A>C
ENST00000700023.1:n.2276A>C
ENST00000700024.1:n.2510A>C
ENST00000706954.1:c.1118A>C ENSP00000516674.1:p.Glu373Ala
ENST00000706955.1:c.*1153A>C ENSP00000516675.1:n.*1153A>C
ENST00000686459.1:c.*704A>C ENSP00000508909.1:n.*704A>C
ENST00000688158.1:c.*1229A>C ENSP00000509254.1:n.*1229A>C
ENST00000688308.1:c.1118A>C ENSP00000508752.1:p.Glu373Ala
ENST00000688922.1:c.1039A>C
ENST00000693560.1:c.1637A>C ENSP00000509861.1:p.Glu546Ala
ENST00000371953.8:c.1118A>C MANE Select ENSP00000361021.3:p.Glu373Ala
ENST00000371953.7:c.1118A>C ENSP00000361021.3:p.Glu373Ala
NM_000314.5:c.1118A>C NP_000305.3:p.Glu373Ala
NM_000314.6:c.1118A>C NP_000305.3:p.Glu373Ala
NM_001304717.2:c.1637A>C NP_001291646.2:p.Glu546Ala
NM_001304718.1:c.527A>C NP_001291647.1:p.Glu176Ala
XM_006717926.2:c.1073A>C XP_006717989.1:p.Glu358Ala
XM_011539982.1:c.1022A>C XP_011538284.1:p.Glu341Ala
XR_945791.1:n.1688A>C
NM_000314.7:c.1118A>C NP_000305.3:p.Glu373Ala
NM_001304717.5:c.1637A>C NP_001291646.4:p.Glu546Ala
NM_001304718.2:c.527A>C NP_001291647.1:p.Glu176Ala
NM_000314.8:c.1118A>C MANE Select NP_000305.3:p.Glu373Ala