Canonical Allele Identifier: CA377485091
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958009T>G , CM000672.2:g.87958009T>G GRCh38
NC_000010.10:g.89717766T>G , CM000672.1:g.89717766T>G GRCh37
NC_000010.9:g.89707746T>G NCBI36
NG_007466.2:g.99571T>G , LRG_311:g.99571T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.791T>G ENSP00000514759.2:p.Met264Arg
ENST00000710265.1:c.791T>G ENSP00000518161.1:p.Met264Arg
ENST00000472832.3:c.791T>G ENSP00000483066.2:p.Met264Arg
ENST00000688158.2:n.1526T>G
ENST00000688922.2:c.*621T>G ENSP00000508742.2:n.*621T>G
ENST00000700021.1:c.746T>G ENSP00000514757.1:p.Met249Arg
ENST00000700022.1:c.*130T>G ENSP00000514758.1:n.*130T>G
ENST00000700023.1:n.1949T>G
ENST00000700024.1:n.2183T>G
ENST00000700025.1:n.1560T>G
ENST00000700026.1:n.428T>G
ENST00000700029.1:c.625T>G
ENST00000706954.1:c.791T>G ENSP00000516674.1:p.Met264Arg
ENST00000706955.1:c.*826T>G ENSP00000516675.1:n.*826T>G
ENST00000686459.1:c.*377T>G ENSP00000508909.1:n.*377T>G
ENST00000688158.1:c.*902T>G ENSP00000509254.1:n.*902T>G
ENST00000688308.1:c.791T>G ENSP00000508752.1:p.Met264Arg
ENST00000688922.1:c.712T>G
ENST00000693560.1:c.1310T>G ENSP00000509861.1:p.Met437Arg
ENST00000371953.8:c.791T>G MANE Select ENSP00000361021.3:p.Met264Arg
ENST00000371953.7:c.791T>G ENSP00000361021.3:p.Met264Arg
ENST00000472832.2:c.218T>G ENSP00000483066.1:p.Met73Arg
NM_000314.5:c.791T>G NP_000305.3:p.Met264Arg
NM_000314.6:c.791T>G NP_000305.3:p.Met264Arg
NM_001304717.2:c.1310T>G NP_001291646.2:p.Met437Arg
NM_001304718.1:c.200T>G NP_001291647.1:p.Met67Arg
XM_006717926.2:c.746T>G XP_006717989.1:p.Met249Arg
XM_011539981.1:c.791T>G XP_011538283.1:p.Met264Arg
XM_011539982.1:c.695T>G XP_011538284.1:p.Met232Arg
XR_945791.1:n.1361T>G
NM_000314.7:c.791T>G NP_000305.3:p.Met264Arg
NM_001304717.5:c.1310T>G NP_001291646.4:p.Met437Arg
NM_001304718.2:c.200T>G NP_001291647.1:p.Met67Arg
NM_000314.8:c.791T>G MANE Select NP_000305.3:p.Met264Arg