Canonical Allele Identifier: CA377487331
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965397T>A , CM000672.2:g.87965397T>A GRCh38
NC_000010.10:g.89725154T>A , CM000672.1:g.89725154T>A GRCh37
NC_000010.9:g.89715134T>A NCBI36
NG_007466.2:g.106959T>A , LRG_311:g.106959T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1230T>A ENSP00000514759.2:p.Tyr410Ter
ENST00000710265.1:c.*166T>A ENSP00000518161.1:n.*166T>A
ENST00000688158.2:n.1872T>A
ENST00000688922.2:c.*967T>A ENSP00000508742.2:n.*967T>A
ENST00000700021.1:c.1092T>A ENSP00000514757.1:p.Tyr364Ter
ENST00000700022.1:c.*476T>A ENSP00000514758.1:n.*476T>A
ENST00000700023.1:n.2295T>A
ENST00000700024.1:n.2529T>A
ENST00000706954.1:c.1137T>A ENSP00000516674.1:p.Tyr379Ter
ENST00000706955.1:c.*1172T>A ENSP00000516675.1:n.*1172T>A
ENST00000686459.1:c.*723T>A ENSP00000508909.1:n.*723T>A
ENST00000688158.1:c.*1248T>A ENSP00000509254.1:n.*1248T>A
ENST00000688308.1:c.1137T>A ENSP00000508752.1:p.Tyr379Ter
ENST00000688922.1:c.1058T>A
ENST00000693560.1:c.1656T>A ENSP00000509861.1:p.Tyr552Ter
ENST00000371953.8:c.1137T>A MANE Select ENSP00000361021.3:p.Tyr379Ter
ENST00000371953.7:c.1137T>A ENSP00000361021.3:p.Tyr379Ter
NM_000314.5:c.1137T>A NP_000305.3:p.Tyr379Ter
NM_000314.6:c.1137T>A NP_000305.3:p.Tyr379Ter
NM_001304717.2:c.1656T>A NP_001291646.2:p.Tyr552Ter
NM_001304718.1:c.546T>A NP_001291647.1:p.Tyr182Ter
XM_006717926.2:c.1092T>A XP_006717989.1:p.Tyr364Ter
XM_011539982.1:c.1041T>A XP_011538284.1:p.Tyr347Ter
XR_945791.1:n.1707T>A
NM_000314.7:c.1137T>A NP_000305.3:p.Tyr379Ter
NM_001304717.5:c.1656T>A NP_001291646.4:p.Tyr552Ter
NM_001304718.2:c.546T>A NP_001291647.1:p.Tyr182Ter
NM_000314.8:c.1137T>A MANE Select NP_000305.3:p.Tyr379Ter