Canonical Allele Identifier: CA377487313
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132289900

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965389T>A , CM000672.2:g.87965389T>A GRCh38
NC_000010.10:g.89725146T>A , CM000672.1:g.89725146T>A GRCh37
NC_000010.9:g.89715126T>A NCBI36
NG_007466.2:g.106951T>A , LRG_311:g.106951T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1222T>A ENSP00000514759.2:p.Tyr408Asn
ENST00000710265.1:c.*158T>A ENSP00000518161.1:n.*158T>A
ENST00000688158.2:n.1864T>A
ENST00000688922.2:c.*959T>A ENSP00000508742.2:n.*959T>A
ENST00000700021.1:c.1084T>A ENSP00000514757.1:p.Tyr362Asn
ENST00000700022.1:c.*468T>A ENSP00000514758.1:n.*468T>A
ENST00000700023.1:n.2287T>A
ENST00000700024.1:n.2521T>A
ENST00000706954.1:c.1129T>A ENSP00000516674.1:p.Tyr377Asn
ENST00000706955.1:c.*1164T>A ENSP00000516675.1:n.*1164T>A
ENST00000686459.1:c.*715T>A ENSP00000508909.1:n.*715T>A
ENST00000688158.1:c.*1240T>A ENSP00000509254.1:n.*1240T>A
ENST00000688308.1:c.1129T>A ENSP00000508752.1:p.Tyr377Asn
ENST00000688922.1:c.1050T>A
ENST00000693560.1:c.1648T>A ENSP00000509861.1:p.Tyr550Asn
ENST00000371953.8:c.1129T>A MANE Select ENSP00000361021.3:p.Tyr377Asn
ENST00000371953.7:c.1129T>A ENSP00000361021.3:p.Tyr377Asn
NM_000314.5:c.1129T>A NP_000305.3:p.Tyr377Asn
NM_000314.6:c.1129T>A NP_000305.3:p.Tyr377Asn
NM_001304717.2:c.1648T>A NP_001291646.2:p.Tyr550Asn
NM_001304718.1:c.538T>A NP_001291647.1:p.Tyr180Asn
XM_006717926.2:c.1084T>A XP_006717989.1:p.Tyr362Asn
XM_011539982.1:c.1033T>A XP_011538284.1:p.Tyr345Asn
XR_945791.1:n.1699T>A
NM_000314.7:c.1129T>A NP_000305.3:p.Tyr377Asn
NM_001304717.5:c.1648T>A NP_001291646.4:p.Tyr550Asn
NM_001304718.2:c.538T>A NP_001291647.1:p.Tyr180Asn
NM_000314.8:c.1129T>A MANE Select NP_000305.3:p.Tyr377Asn