Canonical Allele Identifier: CA377487266
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132289759

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965371G>C , CM000672.2:g.87965371G>C GRCh38
NC_000010.10:g.89725128G>C , CM000672.1:g.89725128G>C GRCh37
NC_000010.9:g.89715108G>C NCBI36
NG_007466.2:g.106933G>C , LRG_311:g.106933G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1204G>C ENSP00000514759.2:p.Asp402His
ENST00000710265.1:c.*140G>C ENSP00000518161.1:n.*140G>C
ENST00000688158.2:n.1846G>C
ENST00000688922.2:c.*941G>C ENSP00000508742.2:n.*941G>C
ENST00000700021.1:c.1066G>C ENSP00000514757.1:p.Asp356His
ENST00000700022.1:c.*450G>C ENSP00000514758.1:n.*450G>C
ENST00000700023.1:n.2269G>C
ENST00000700024.1:n.2503G>C
ENST00000706954.1:c.1111G>C ENSP00000516674.1:p.Asp371His
ENST00000706955.1:c.*1146G>C ENSP00000516675.1:n.*1146G>C
ENST00000686459.1:c.*697G>C ENSP00000508909.1:n.*697G>C
ENST00000688158.1:c.*1222G>C ENSP00000509254.1:n.*1222G>C
ENST00000688308.1:c.1111G>C ENSP00000508752.1:p.Asp371His
ENST00000688922.1:c.1032G>C
ENST00000693560.1:c.1630G>C ENSP00000509861.1:p.Asp544His
ENST00000371953.8:c.1111G>C MANE Select ENSP00000361021.3:p.Asp371His
ENST00000371953.7:c.1111G>C ENSP00000361021.3:p.Asp371His
NM_000314.5:c.1111G>C NP_000305.3:p.Asp371His
NM_000314.6:c.1111G>C NP_000305.3:p.Asp371His
NM_001304717.2:c.1630G>C NP_001291646.2:p.Asp544His
NM_001304718.1:c.520G>C NP_001291647.1:p.Asp174His
XM_006717926.2:c.1066G>C XP_006717989.1:p.Asp356His
XM_011539982.1:c.1015G>C XP_011538284.1:p.Asp339His
XR_945791.1:n.1681G>C
NM_000314.7:c.1111G>C NP_000305.3:p.Asp371His
NM_001304717.5:c.1630G>C NP_001291646.4:p.Asp544His
NM_001304718.2:c.520G>C NP_001291647.1:p.Asp174His
NM_000314.8:c.1111G>C MANE Select NP_000305.3:p.Asp371His