Canonical Allele Identifier: CA377485057
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957995C>G , CM000672.2:g.87957995C>G GRCh38
NC_000010.10:g.89717752C>G , CM000672.1:g.89717752C>G GRCh37
NC_000010.9:g.89707732C>G NCBI36
NG_007466.2:g.99557C>G , LRG_311:g.99557C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.777C>G ENSP00000514759.2:p.His259Gln
ENST00000710265.1:c.777C>G ENSP00000518161.1:p.His259Gln
ENST00000472832.3:c.777C>G ENSP00000483066.2:p.His259Gln
ENST00000688158.2:n.1512C>G
ENST00000688922.2:c.*607C>G ENSP00000508742.2:n.*607C>G
ENST00000700021.1:c.732C>G ENSP00000514757.1:p.His244Gln
ENST00000700022.1:c.*116C>G ENSP00000514758.1:n.*116C>G
ENST00000700023.1:n.1935C>G
ENST00000700024.1:n.2169C>G
ENST00000700025.1:n.1546C>G
ENST00000700026.1:n.414C>G
ENST00000700029.1:c.611C>G
ENST00000706954.1:c.777C>G ENSP00000516674.1:p.His259Gln
ENST00000706955.1:c.*812C>G ENSP00000516675.1:n.*812C>G
ENST00000686459.1:c.*363C>G ENSP00000508909.1:n.*363C>G
ENST00000688158.1:c.*888C>G ENSP00000509254.1:n.*888C>G
ENST00000688308.1:c.777C>G ENSP00000508752.1:p.His259Gln
ENST00000688922.1:c.698C>G
ENST00000693560.1:c.1296C>G ENSP00000509861.1:p.His432Gln
ENST00000371953.8:c.777C>G MANE Select ENSP00000361021.3:p.His259Gln
ENST00000371953.7:c.777C>G ENSP00000361021.3:p.His259Gln
ENST00000472832.2:c.204C>G ENSP00000483066.1:p.His68Gln
NM_000314.5:c.777C>G NP_000305.3:p.His259Gln
NM_000314.6:c.777C>G NP_000305.3:p.His259Gln
NM_001304717.2:c.1296C>G NP_001291646.2:p.His432Gln
NM_001304718.1:c.186C>G NP_001291647.1:p.His62Gln
XM_006717926.2:c.732C>G XP_006717989.1:p.His244Gln
XM_011539981.1:c.777C>G XP_011538283.1:p.His259Gln
XM_011539982.1:c.681C>G XP_011538284.1:p.His227Gln
XR_945791.1:n.1347C>G
NM_000314.7:c.777C>G NP_000305.3:p.His259Gln
NM_001304717.5:c.1296C>G NP_001291646.4:p.His432Gln
NM_001304718.2:c.186C>G NP_001291647.1:p.His62Gln
NM_000314.8:c.777C>G MANE Select NP_000305.3:p.His259Gln