Canonical Allele Identifier: CA377487430
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132290227

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965439T>A , CM000672.2:g.87965439T>A GRCh38
NC_000010.10:g.89725196T>A , CM000672.1:g.89725196T>A GRCh37
NC_000010.9:g.89715176T>A NCBI36
NG_007466.2:g.107001T>A , LRG_311:g.107001T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1272T>A ENSP00000514759.2:p.Asp424Glu
ENST00000710265.1:c.*208T>A ENSP00000518161.1:n.*208T>A
ENST00000688158.2:n.1914T>A
ENST00000688922.2:c.*1009T>A ENSP00000508742.2:n.*1009T>A
ENST00000700021.1:c.1134T>A ENSP00000514757.1:p.Asp378Glu
ENST00000700022.1:c.*518T>A ENSP00000514758.1:n.*518T>A
ENST00000700023.1:n.2337T>A
ENST00000700024.1:n.2571T>A
ENST00000706954.1:c.1179T>A ENSP00000516674.1:p.Asp393Glu
ENST00000706955.1:c.*1214T>A ENSP00000516675.1:n.*1214T>A
ENST00000686459.1:c.*765T>A ENSP00000508909.1:n.*765T>A
ENST00000688158.1:c.*1290T>A ENSP00000509254.1:n.*1290T>A
ENST00000688308.1:c.1179T>A ENSP00000508752.1:p.Asp393Glu
ENST00000688922.1:c.1100T>A
ENST00000693560.1:c.1698T>A ENSP00000509861.1:p.Asp566Glu
ENST00000371953.8:c.1179T>A MANE Select ENSP00000361021.3:p.Asp393Glu
ENST00000371953.7:c.1179T>A ENSP00000361021.3:p.Asp393Glu
NM_000314.5:c.1179T>A NP_000305.3:p.Asp393Glu
NM_000314.6:c.1179T>A NP_000305.3:p.Asp393Glu
NM_001304717.2:c.1698T>A NP_001291646.2:p.Asp566Glu
NM_001304718.1:c.588T>A NP_001291647.1:p.Asp196Glu
XM_006717926.2:c.1134T>A XP_006717989.1:p.Asp378Glu
XM_011539982.1:c.1083T>A XP_011538284.1:p.Asp361Glu
XR_945791.1:n.1749T>A
NM_000314.7:c.1179T>A NP_000305.3:p.Asp393Glu
NM_001304717.5:c.1698T>A NP_001291646.4:p.Asp566Glu
NM_001304718.2:c.588T>A NP_001291647.1:p.Asp196Glu
NM_000314.8:c.1179T>A MANE Select NP_000305.3:p.Asp393Glu