Canonical Allele Identifier: CA377487440
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132290244

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965443G>A , CM000672.2:g.87965443G>A GRCh38
NC_000010.10:g.89725200G>A , CM000672.1:g.89725200G>A GRCh37
NC_000010.9:g.89715180G>A NCBI36
NG_007466.2:g.107005G>A , LRG_311:g.107005G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1276G>A ENSP00000514759.2:p.Asp426Asn
ENST00000710265.1:c.*212G>A ENSP00000518161.1:n.*212G>A
ENST00000688158.2:n.1918G>A
ENST00000688922.2:c.*1013G>A ENSP00000508742.2:n.*1013G>A
ENST00000700021.1:c.1138G>A ENSP00000514757.1:p.Asp380Asn
ENST00000700022.1:c.*522G>A ENSP00000514758.1:n.*522G>A
ENST00000700023.1:n.2341G>A
ENST00000700024.1:n.2575G>A
ENST00000706954.1:c.1183G>A ENSP00000516674.1:p.Asp395Asn
ENST00000706955.1:c.*1218G>A ENSP00000516675.1:n.*1218G>A
ENST00000686459.1:c.*769G>A ENSP00000508909.1:n.*769G>A
ENST00000688158.1:c.*1294G>A ENSP00000509254.1:n.*1294G>A
ENST00000688308.1:c.1183G>A ENSP00000508752.1:p.Asp395Asn
ENST00000688922.1:c.1104G>A
ENST00000693560.1:c.1702G>A ENSP00000509861.1:p.Asp568Asn
ENST00000371953.8:c.1183G>A MANE Select ENSP00000361021.3:p.Asp395Asn
ENST00000371953.7:c.1183G>A ENSP00000361021.3:p.Asp395Asn
NM_000314.5:c.1183G>A NP_000305.3:p.Asp395Asn
NM_000314.6:c.1183G>A NP_000305.3:p.Asp395Asn
NM_001304717.2:c.1702G>A NP_001291646.2:p.Asp568Asn
NM_001304718.1:c.592G>A NP_001291647.1:p.Asp198Asn
XM_006717926.2:c.1138G>A XP_006717989.1:p.Asp380Asn
XM_011539982.1:c.1087G>A XP_011538284.1:p.Asp363Asn
XR_945791.1:n.1753G>A
NM_000314.7:c.1183G>A NP_000305.3:p.Asp395Asn
NM_001304717.5:c.1702G>A NP_001291646.4:p.Asp568Asn
NM_001304718.2:c.592G>A NP_001291647.1:p.Asp198Asn
NM_000314.8:c.1183G>A MANE Select NP_000305.3:p.Asp395Asn