Canonical Allele Identifier: CA377485889
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132282844

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961022T>G , CM000672.2:g.87961022T>G GRCh38
NC_000010.10:g.89720779T>G , CM000672.1:g.89720779T>G GRCh37
NC_000010.9:g.89710759T>G NCBI36
NG_007466.2:g.102584T>G , LRG_311:g.102584T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1023T>G ENSP00000514759.2:p.Asp341Glu
ENST00000710265.1:c.930T>G ENSP00000518161.1:p.Asp310Glu
ENST00000472832.3:c.930T>G ENSP00000483066.2:p.Asp310Glu
ENST00000688158.2:n.1665T>G
ENST00000688922.2:c.*760T>G ENSP00000508742.2:n.*760T>G
ENST00000700021.1:c.885T>G ENSP00000514757.1:p.Asp295Glu
ENST00000700022.1:c.*269T>G ENSP00000514758.1:n.*269T>G
ENST00000700023.1:n.2088T>G
ENST00000700024.1:n.2322T>G
ENST00000700025.1:n.1699T>G
ENST00000700026.1:n.567T>G
ENST00000706954.1:c.930T>G ENSP00000516674.1:p.Asp310Glu
ENST00000706955.1:c.*965T>G ENSP00000516675.1:n.*965T>G
ENST00000686459.1:c.*516T>G ENSP00000508909.1:n.*516T>G
ENST00000688158.1:c.*1041T>G ENSP00000509254.1:n.*1041T>G
ENST00000688308.1:c.930T>G ENSP00000508752.1:p.Asp310Glu
ENST00000688922.1:c.851T>G
ENST00000693560.1:c.1449T>G ENSP00000509861.1:p.Asp483Glu
ENST00000371953.8:c.930T>G MANE Select ENSP00000361021.3:p.Asp310Glu
ENST00000371953.7:c.930T>G ENSP00000361021.3:p.Asp310Glu
ENST00000472832.2:c.357T>G ENSP00000483066.1:p.Asp119Glu
NM_000314.5:c.930T>G NP_000305.3:p.Asp310Glu
NM_000314.6:c.930T>G NP_000305.3:p.Asp310Glu
NM_001304717.2:c.1449T>G NP_001291646.2:p.Asp483Glu
NM_001304718.1:c.339T>G NP_001291647.1:p.Asp113Glu
XM_006717926.2:c.885T>G XP_006717989.1:p.Asp295Glu
XM_011539981.1:c.930T>G XP_011538283.1:p.Asp310Glu
XM_011539982.1:c.834T>G XP_011538284.1:p.Asp278Glu
XR_945791.1:n.1500T>G
NM_000314.7:c.930T>G NP_000305.3:p.Asp310Glu
NM_001304717.5:c.1449T>G NP_001291646.4:p.Asp483Glu
NM_001304718.2:c.339T>G NP_001291647.1:p.Asp113Glu
NM_000314.8:c.930T>G MANE Select NP_000305.3:p.Asp310Glu