Canonical Allele Identifier: CA377487472
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965456A>G , CM000672.2:g.87965456A>G GRCh38
NC_000010.10:g.89725213A>G , CM000672.1:g.89725213A>G GRCh37
NC_000010.9:g.89715193A>G NCBI36
NG_007466.2:g.107018A>G , LRG_311:g.107018A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1289A>G ENSP00000514759.2:p.Gln430Arg
ENST00000710265.1:c.*225A>G ENSP00000518161.1:n.*225A>G
ENST00000688158.2:n.1931A>G
ENST00000688922.2:c.*1026A>G ENSP00000508742.2:n.*1026A>G
ENST00000700021.1:c.1151A>G ENSP00000514757.1:p.Gln384Arg
ENST00000700022.1:c.*535A>G ENSP00000514758.1:n.*535A>G
ENST00000700023.1:n.2354A>G
ENST00000700024.1:n.2588A>G
ENST00000706954.1:c.1196A>G ENSP00000516674.1:p.Gln399Arg
ENST00000706955.1:c.*1231A>G ENSP00000516675.1:n.*1231A>G
ENST00000686459.1:c.*782A>G ENSP00000508909.1:n.*782A>G
ENST00000688158.1:c.*1307A>G ENSP00000509254.1:n.*1307A>G
ENST00000688308.1:c.1196A>G ENSP00000508752.1:p.Gln399Arg
ENST00000688922.1:c.1117A>G
ENST00000693560.1:c.1715A>G ENSP00000509861.1:p.Gln572Arg
ENST00000371953.8:c.1196A>G MANE Select ENSP00000361021.3:p.Gln399Arg
ENST00000371953.7:c.1196A>G ENSP00000361021.3:p.Gln399Arg
NM_000314.5:c.1196A>G NP_000305.3:p.Gln399Arg
NM_000314.6:c.1196A>G NP_000305.3:p.Gln399Arg
NM_001304717.2:c.1715A>G NP_001291646.2:p.Gln572Arg
NM_001304718.1:c.605A>G NP_001291647.1:p.Gln202Arg
XM_006717926.2:c.1151A>G XP_006717989.1:p.Gln384Arg
XM_011539982.1:c.1100A>G XP_011538284.1:p.Gln367Arg
XR_945791.1:n.1766A>G
NM_000314.7:c.1196A>G NP_000305.3:p.Gln399Arg
NM_001304717.5:c.1715A>G NP_001291646.4:p.Gln572Arg
NM_001304718.2:c.605A>G NP_001291647.1:p.Gln202Arg
NM_000314.8:c.1196A>G MANE Select NP_000305.3:p.Gln399Arg