Canonical Allele Identifier: CA377487471
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1289A>C ENSP00000514759.2:p.Gln430Pro
ENST00000710265.1:c.*225A>C ENSP00000518161.1:n.*225A>C
ENST00000688158.2:n.1931A>C
ENST00000688922.2:c.*1026A>C ENSP00000508742.2:n.*1026A>C
ENST00000700021.1:c.1151A>C ENSP00000514757.1:p.Gln384Pro
ENST00000700022.1:c.*535A>C ENSP00000514758.1:n.*535A>C
ENST00000700023.1:n.2354A>C
ENST00000700024.1:n.2588A>C
ENST00000706954.1:c.1196A>C ENSP00000516674.1:p.Gln399Pro
ENST00000706955.1:c.*1231A>C ENSP00000516675.1:n.*1231A>C
ENST00000686459.1:c.*782A>C ENSP00000508909.1:n.*782A>C
ENST00000688158.1:c.*1307A>C ENSP00000509254.1:n.*1307A>C
ENST00000688308.1:c.1196A>C ENSP00000508752.1:p.Gln399Pro
ENST00000688922.1:c.1117A>C
ENST00000693560.1:c.1715A>C ENSP00000509861.1:p.Gln572Pro
ENST00000371953.8:c.1196A>C MANE Select ENSP00000361021.3:p.Gln399Pro
ENST00000371953.7:c.1196A>C ENSP00000361021.3:p.Gln399Pro
NM_000314.5:c.1196A>C NP_000305.3:p.Gln399Pro
NM_000314.6:c.1196A>C NP_000305.3:p.Gln399Pro
NM_001304717.2:c.1715A>C NP_001291646.2:p.Gln572Pro
NM_001304718.1:c.605A>C NP_001291647.1:p.Gln202Pro
XM_006717926.2:c.1151A>C XP_006717989.1:p.Gln384Pro
XM_011539982.1:c.1100A>C XP_011538284.1:p.Gln367Pro
XR_945791.1:n.1766A>C
NM_000314.7:c.1196A>C NP_000305.3:p.Gln399Pro
NM_001304717.5:c.1715A>C NP_001291646.4:p.Gln572Pro
NM_001304718.2:c.605A>C NP_001291647.1:p.Gln202Pro
NM_000314.8:c.1196A>C MANE Select NP_000305.3:p.Gln399Pro