Canonical Allele Identifier: CA377485050
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132277651

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957993C>G , CM000672.2:g.87957993C>G GRCh38
NC_000010.10:g.89717750C>G , CM000672.1:g.89717750C>G GRCh37
NC_000010.9:g.89707730C>G NCBI36
NG_007466.2:g.99555C>G , LRG_311:g.99555C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.775C>G ENSP00000514759.2:p.His259Asp
ENST00000710265.1:c.775C>G ENSP00000518161.1:p.His259Asp
ENST00000472832.3:c.775C>G ENSP00000483066.2:p.His259Asp
ENST00000688158.2:n.1510C>G
ENST00000688922.2:c.*605C>G ENSP00000508742.2:n.*605C>G
ENST00000700021.1:c.730C>G ENSP00000514757.1:p.His244Asp
ENST00000700022.1:c.*114C>G ENSP00000514758.1:n.*114C>G
ENST00000700023.1:n.1933C>G
ENST00000700024.1:n.2167C>G
ENST00000700025.1:n.1544C>G
ENST00000700026.1:n.412C>G
ENST00000700029.1:c.609C>G
ENST00000706954.1:c.775C>G ENSP00000516674.1:p.His259Asp
ENST00000706955.1:c.*810C>G ENSP00000516675.1:n.*810C>G
ENST00000686459.1:c.*361C>G ENSP00000508909.1:n.*361C>G
ENST00000688158.1:c.*886C>G ENSP00000509254.1:n.*886C>G
ENST00000688308.1:c.775C>G ENSP00000508752.1:p.His259Asp
ENST00000688922.1:c.696C>G
ENST00000693560.1:c.1294C>G ENSP00000509861.1:p.His432Asp
ENST00000371953.8:c.775C>G MANE Select ENSP00000361021.3:p.His259Asp
ENST00000371953.7:c.775C>G ENSP00000361021.3:p.His259Asp
ENST00000472832.2:c.202C>G ENSP00000483066.1:p.His68Asp
NM_000314.5:c.775C>G NP_000305.3:p.His259Asp
NM_000314.6:c.775C>G NP_000305.3:p.His259Asp
NM_001304717.2:c.1294C>G NP_001291646.2:p.His432Asp
NM_001304718.1:c.184C>G NP_001291647.1:p.His62Asp
XM_006717926.2:c.730C>G XP_006717989.1:p.His244Asp
XM_011539981.1:c.775C>G XP_011538283.1:p.His259Asp
XM_011539982.1:c.679C>G XP_011538284.1:p.His227Asp
XR_945791.1:n.1345C>G
NM_000314.7:c.775C>G NP_000305.3:p.His259Asp
NM_001304717.5:c.1294C>G NP_001291646.4:p.His432Asp
NM_001304718.2:c.184C>G NP_001291647.1:p.His62Asp
NM_000314.8:c.775C>G MANE Select NP_000305.3:p.His259Asp