Canonical Allele Identifier: CA377485044
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957990T>G , CM000672.2:g.87957990T>G GRCh38
NC_000010.10:g.89717747T>G , CM000672.1:g.89717747T>G GRCh37
NC_000010.9:g.89707727T>G NCBI36
NG_007466.2:g.99552T>G , LRG_311:g.99552T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.772T>G ENSP00000514759.2:p.Phe258Val
ENST00000710265.1:c.772T>G ENSP00000518161.1:p.Phe258Val
ENST00000472832.3:c.772T>G ENSP00000483066.2:p.Phe258Val
ENST00000688158.2:n.1507T>G
ENST00000688922.2:c.*602T>G ENSP00000508742.2:n.*602T>G
ENST00000700021.1:c.727T>G ENSP00000514757.1:p.Phe243Val
ENST00000700022.1:c.*111T>G ENSP00000514758.1:n.*111T>G
ENST00000700023.1:n.1930T>G
ENST00000700024.1:n.2164T>G
ENST00000700025.1:n.1541T>G
ENST00000700026.1:n.409T>G
ENST00000700029.1:c.606T>G
ENST00000706954.1:c.772T>G ENSP00000516674.1:p.Phe258Val
ENST00000706955.1:c.*807T>G ENSP00000516675.1:n.*807T>G
ENST00000686459.1:c.*358T>G ENSP00000508909.1:n.*358T>G
ENST00000688158.1:c.*883T>G ENSP00000509254.1:n.*883T>G
ENST00000688308.1:c.772T>G ENSP00000508752.1:p.Phe258Val
ENST00000688922.1:c.693T>G
ENST00000693560.1:c.1291T>G ENSP00000509861.1:p.Phe431Val
ENST00000371953.8:c.772T>G MANE Select ENSP00000361021.3:p.Phe258Val
ENST00000371953.7:c.772T>G ENSP00000361021.3:p.Phe258Val
ENST00000472832.2:c.199T>G ENSP00000483066.1:p.Phe67Val
NM_000314.5:c.772T>G NP_000305.3:p.Phe258Val
NM_000314.6:c.772T>G NP_000305.3:p.Phe258Val
NM_001304717.2:c.1291T>G NP_001291646.2:p.Phe431Val
NM_001304718.1:c.181T>G NP_001291647.1:p.Phe61Val
XM_006717926.2:c.727T>G XP_006717989.1:p.Phe243Val
XM_011539981.1:c.772T>G XP_011538283.1:p.Phe258Val
XM_011539982.1:c.676T>G XP_011538284.1:p.Phe226Val
XR_945791.1:n.1342T>G
NM_000314.7:c.772T>G NP_000305.3:p.Phe258Val
NM_001304717.5:c.1291T>G NP_001291646.4:p.Phe431Val
NM_001304718.2:c.181T>G NP_001291647.1:p.Phe61Val
NM_000314.8:c.772T>G MANE Select NP_000305.3:p.Phe258Val