Canonical Allele Identifier: CA377485066
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 873325
ClinVar RCV Id: RCV001263190
dbSNP Id: rs730882131

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957999C>G , CM000672.2:g.87957999C>G GRCh38
NC_000010.10:g.89717756C>G , CM000672.1:g.89717756C>G GRCh37
NC_000010.9:g.89707736C>G NCBI36
NG_007466.2:g.99561C>G , LRG_311:g.99561C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.781C>G ENSP00000514759.2:p.Gln261Glu
ENST00000710265.1:c.781C>G ENSP00000518161.1:p.Gln261Glu
ENST00000472832.3:c.781C>G ENSP00000483066.2:p.Gln261Glu
ENST00000688158.2:n.1516C>G
ENST00000688922.2:c.*611C>G ENSP00000508742.2:n.*611C>G
ENST00000700021.1:c.736C>G ENSP00000514757.1:p.Gln246Glu
ENST00000700022.1:c.*120C>G ENSP00000514758.1:n.*120C>G
ENST00000700023.1:n.1939C>G
ENST00000700024.1:n.2173C>G
ENST00000700025.1:n.1550C>G
ENST00000700026.1:n.418C>G
ENST00000700029.1:c.615C>G
ENST00000706954.1:c.781C>G ENSP00000516674.1:p.Gln261Glu
ENST00000706955.1:c.*816C>G ENSP00000516675.1:n.*816C>G
ENST00000686459.1:c.*367C>G ENSP00000508909.1:n.*367C>G
ENST00000688158.1:c.*892C>G ENSP00000509254.1:n.*892C>G
ENST00000688308.1:c.781C>G ENSP00000508752.1:p.Gln261Glu
ENST00000688922.1:c.702C>G
ENST00000693560.1:c.1300C>G ENSP00000509861.1:p.Gln434Glu
ENST00000371953.8:c.781C>G MANE Select ENSP00000361021.3:p.Gln261Glu
ENST00000371953.7:c.781C>G ENSP00000361021.3:p.Gln261Glu
ENST00000472832.2:c.208C>G ENSP00000483066.1:p.Gln70Glu
NM_000314.5:c.781C>G NP_000305.3:p.Gln261Glu
NM_000314.6:c.781C>G NP_000305.3:p.Gln261Glu
NM_001304717.2:c.1300C>G NP_001291646.2:p.Gln434Glu
NM_001304718.1:c.190C>G NP_001291647.1:p.Gln64Glu
XM_006717926.2:c.736C>G XP_006717989.1:p.Gln246Glu
XM_011539981.1:c.781C>G XP_011538283.1:p.Gln261Glu
XM_011539982.1:c.685C>G XP_011538284.1:p.Gln229Glu
XR_945791.1:n.1351C>G
NM_000314.7:c.781C>G NP_000305.3:p.Gln261Glu
NM_001304717.5:c.1300C>G NP_001291646.4:p.Gln434Glu
NM_001304718.2:c.190C>G NP_001291647.1:p.Gln64Glu
NM_000314.8:c.781C>G MANE Select NP_000305.3:p.Gln261Glu