Canonical Allele Identifier: CA377487360
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965410G>C , CM000672.2:g.87965410G>C GRCh38
NC_000010.10:g.89725167G>C , CM000672.1:g.89725167G>C GRCh37
NC_000010.9:g.89715147G>C NCBI36
NG_007466.2:g.106972G>C , LRG_311:g.106972G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1243G>C ENSP00000514759.2:p.Asp415His
ENST00000710265.1:c.*179G>C ENSP00000518161.1:n.*179G>C
ENST00000688158.2:n.1885G>C
ENST00000688922.2:c.*980G>C ENSP00000508742.2:n.*980G>C
ENST00000700021.1:c.1105G>C ENSP00000514757.1:p.Asp369His
ENST00000700022.1:c.*489G>C ENSP00000514758.1:n.*489G>C
ENST00000700023.1:n.2308G>C
ENST00000700024.1:n.2542G>C
ENST00000706954.1:c.1150G>C ENSP00000516674.1:p.Asp384His
ENST00000706955.1:c.*1185G>C ENSP00000516675.1:n.*1185G>C
ENST00000686459.1:c.*736G>C ENSP00000508909.1:n.*736G>C
ENST00000688158.1:c.*1261G>C ENSP00000509254.1:n.*1261G>C
ENST00000688308.1:c.1150G>C ENSP00000508752.1:p.Asp384His
ENST00000688922.1:c.1071G>C
ENST00000693560.1:c.1669G>C ENSP00000509861.1:p.Asp557His
ENST00000371953.8:c.1150G>C MANE Select ENSP00000361021.3:p.Asp384His
ENST00000371953.7:c.1150G>C ENSP00000361021.3:p.Asp384His
NM_000314.5:c.1150G>C NP_000305.3:p.Asp384His
NM_000314.6:c.1150G>C NP_000305.3:p.Asp384His
NM_001304717.2:c.1669G>C NP_001291646.2:p.Asp557His
NM_001304718.1:c.559G>C NP_001291647.1:p.Asp187His
XM_006717926.2:c.1105G>C XP_006717989.1:p.Asp369His
XM_011539982.1:c.1054G>C XP_011538284.1:p.Asp352His
XR_945791.1:n.1720G>C
NM_000314.7:c.1150G>C NP_000305.3:p.Asp384His
NM_001304717.5:c.1669G>C NP_001291646.4:p.Asp557His
NM_001304718.2:c.559G>C NP_001291647.1:p.Asp187His
NM_000314.8:c.1150G>C MANE Select NP_000305.3:p.Asp384His