Canonical Allele Identifier: CA377487325
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132289959

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965395T>A , CM000672.2:g.87965395T>A GRCh38
NC_000010.10:g.89725152T>A , CM000672.1:g.89725152T>A GRCh37
NC_000010.9:g.89715132T>A NCBI36
NG_007466.2:g.106957T>A , LRG_311:g.106957T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1228T>A ENSP00000514759.2:p.Tyr410Asn
ENST00000710265.1:c.*164T>A ENSP00000518161.1:n.*164T>A
ENST00000688158.2:n.1870T>A
ENST00000688922.2:c.*965T>A ENSP00000508742.2:n.*965T>A
ENST00000700021.1:c.1090T>A ENSP00000514757.1:p.Tyr364Asn
ENST00000700022.1:c.*474T>A ENSP00000514758.1:n.*474T>A
ENST00000700023.1:n.2293T>A
ENST00000700024.1:n.2527T>A
ENST00000706954.1:c.1135T>A ENSP00000516674.1:p.Tyr379Asn
ENST00000706955.1:c.*1170T>A ENSP00000516675.1:n.*1170T>A
ENST00000686459.1:c.*721T>A ENSP00000508909.1:n.*721T>A
ENST00000688158.1:c.*1246T>A ENSP00000509254.1:n.*1246T>A
ENST00000688308.1:c.1135T>A ENSP00000508752.1:p.Tyr379Asn
ENST00000688922.1:c.1056T>A
ENST00000693560.1:c.1654T>A ENSP00000509861.1:p.Tyr552Asn
ENST00000371953.8:c.1135T>A MANE Select ENSP00000361021.3:p.Tyr379Asn
ENST00000371953.7:c.1135T>A ENSP00000361021.3:p.Tyr379Asn
NM_000314.5:c.1135T>A NP_000305.3:p.Tyr379Asn
NM_000314.6:c.1135T>A NP_000305.3:p.Tyr379Asn
NM_001304717.2:c.1654T>A NP_001291646.2:p.Tyr552Asn
NM_001304718.1:c.544T>A NP_001291647.1:p.Tyr182Asn
XM_006717926.2:c.1090T>A XP_006717989.1:p.Tyr364Asn
XM_011539982.1:c.1039T>A XP_011538284.1:p.Tyr347Asn
XR_945791.1:n.1705T>A
NM_000314.7:c.1135T>A NP_000305.3:p.Tyr379Asn
NM_001304717.5:c.1654T>A NP_001291646.4:p.Tyr552Asn
NM_001304718.2:c.544T>A NP_001291647.1:p.Tyr182Asn
NM_000314.8:c.1135T>A MANE Select NP_000305.3:p.Tyr379Asn