Canonical Allele Identifier: CA000412
Community Standard Title: NM_000314.8(PTEN):c.360A>C (p.Ala120=)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933119A>C , CM000672.2:g.87933119A>C GRCh38
NC_000010.10:g.89692876A>C , CM000672.1:g.89692876A>C GRCh37
NC_000010.9:g.89682856A>C NCBI36
NG_007466.2:g.74681A>C , LRG_311:g.74681A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.360A>C MANE Select NP_000305.3:p.Ala120=
ENST00000371953.8:c.360A>C MANE Select ENSP00000361021.3:p.Ala120=
NM_000314.5:c.360A>C NP_000305.3:p.Ala120=
NM_000314.6:c.360A>C NP_000305.3:p.Ala120=
NM_000314.7:c.360A>C NP_000305.3:p.Ala120=
NM_001304717.2:c.879A>C NP_001291646.2:p.Ala293=
NM_001304717.5:c.879A>C NP_001291646.4:p.Ala293=
NM_001304718.1:c.-391A>C NP_001291647.1:n.-391A>C
NM_001304718.2:c.-391A>C NP_001291647.1:n.-391A>C
ENST00000371953.7:c.360A>C ENSP00000361021.3:p.Ala120=
ENST00000472832.3:c.360A>C ENSP00000483066.2:p.Ala120=
ENST00000498703.1:n.186A>C
ENST00000610634.1:c.258A>C ENSP00000477517.1:p.Ala86=
ENST00000686459.1:c.360A>C ENSP00000508909.1:p.Ala120=
ENST00000688158.1:c.*471A>C ENSP00000509254.1:n.*471A>C
ENST00000688158.2:n.1095A>C
ENST00000688308.1:c.360A>C ENSP00000508752.1:p.Ala120=
ENST00000688922.1:c.281A>C
ENST00000688922.2:c.*190A>C ENSP00000508742.2:n.*190A>C
ENST00000693560.1:c.879A>C ENSP00000509861.1:p.Ala293=
ENST00000700021.1:c.315A>C ENSP00000514757.1:p.Ala105=
ENST00000700022.1:c.360A>C ENSP00000514758.1:p.Ala120=
ENST00000700029.1:c.194A>C
ENST00000700029.2:c.360A>C ENSP00000514759.2:p.Ala120=
ENST00000706954.1:c.360A>C ENSP00000516674.1:p.Ala120=
ENST00000706955.1:c.*395A>C ENSP00000516675.1:n.*395A>C
ENST00000710265.1:c.360A>C ENSP00000518161.1:p.Ala120=
XM_006717926.2:c.315A>C XP_006717989.1:p.Ala105=
XM_011539981.1:c.360A>C XP_011538283.1:p.Ala120=
XM_011539982.1:c.264A>C XP_011538284.1:p.Ala88=
XR_945789.1:n.1072A>C
XR_945790.1:n.1072A>C
XR_945791.1:n.1072A>C