Canonical Allele Identifier: CA377484360
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952160A>C , CM000672.2:g.87952160A>C GRCh38
NC_000010.10:g.89711917A>C , CM000672.1:g.89711917A>C GRCh37
NC_000010.9:g.89701897A>C NCBI36
NG_007466.2:g.93722A>C , LRG_311:g.93722A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.535A>C ENSP00000514759.2:p.Ser179Arg
ENST00000710265.1:c.535A>C ENSP00000518161.1:p.Ser179Arg
ENST00000472832.3:c.535A>C ENSP00000483066.2:p.Ser179Arg
ENST00000688158.2:n.1270A>C
ENST00000688922.2:c.*365A>C ENSP00000508742.2:n.*365A>C
ENST00000700021.1:c.490A>C ENSP00000514757.1:p.Ser164Arg
ENST00000700022.1:c.493-5693A>C ENSP00000514758.1:n.493-5693A>C
ENST00000700023.1:n.1693A>C
ENST00000700024.1:n.1927A>C
ENST00000700025.1:n.1304A>C
ENST00000700029.1:c.369A>C
ENST00000706954.1:c.535A>C ENSP00000516674.1:p.Ser179Arg
ENST00000706955.1:c.*570A>C ENSP00000516675.1:n.*570A>C
ENST00000686459.1:c.*121A>C ENSP00000508909.1:n.*121A>C
ENST00000688158.1:c.*646A>C ENSP00000509254.1:n.*646A>C
ENST00000688308.1:c.535A>C ENSP00000508752.1:p.Ser179Arg
ENST00000688922.1:c.456A>C
ENST00000693560.1:c.1054A>C ENSP00000509861.1:p.Ser352Arg
ENST00000371953.8:c.535A>C MANE Select ENSP00000361021.3:p.Ser179Arg
ENST00000371953.7:c.535A>C ENSP00000361021.3:p.Ser179Arg
NM_000314.5:c.535A>C NP_000305.3:p.Ser179Arg
NM_000314.6:c.535A>C NP_000305.3:p.Ser179Arg
NM_001304717.2:c.1054A>C NP_001291646.2:p.Ser352Arg
NM_001304718.1:c.-57A>C NP_001291647.1:n.-57A>C
XM_006717926.2:c.490A>C XP_006717989.1:p.Ser164Arg
XM_011539981.1:c.535A>C XP_011538283.1:p.Ser179Arg
XM_011539982.1:c.439A>C XP_011538284.1:p.Ser147Arg
XR_945789.1:n.1406A>C
XR_945790.1:n.1523A>C
XR_945791.1:n.1205-5693A>C
NM_000314.7:c.535A>C NP_000305.3:p.Ser179Arg
NM_001304717.5:c.1054A>C NP_001291646.4:p.Ser352Arg
NM_001304718.2:c.-57A>C NP_001291647.1:n.-57A>C
NM_000314.8:c.535A>C MANE Select NP_000305.3:p.Ser179Arg