Canonical Allele Identifier: CA1926175252
Community Standard Title: NM_000314.8(PTEN):c.388C= (p.Arg130=)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933147C= , CM000672.2:g.87933147C= GRCh38
NC_000010.10:g.89692904C= , CM000672.1:g.89692904C= GRCh37
NC_000010.9:g.89682884C= NCBI36
NG_007466.2:g.74709C= , LRG_311:g.74709C=

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.388C= MANE Select NP_000305.3:p.Arg130=
ENST00000371953.8:c.388C= MANE Select ENSP00000361021.3:p.Arg130=
NM_000314.5:c.388C= NP_000305.3:p.Arg130=
NM_000314.6:c.388C= NP_000305.3:p.Arg130=
NM_000314.7:c.388C= NP_000305.3:p.Arg130=
NM_001304717.2:c.907C= NP_001291646.2:p.Arg303=
NM_001304717.5:c.907C= NP_001291646.4:p.Arg303=
NM_001304718.1:c.-363C= NP_001291647.1:n.-363C=
NM_001304718.2:c.-363C= NP_001291647.1:n.-363C=
ENST00000371953.7:c.388C= ENSP00000361021.3:p.Arg130=
ENST00000472832.3:c.388C= ENSP00000483066.2:p.Arg130=
ENST00000498703.1:n.214C=
ENST00000610634.1:c.286C= ENSP00000477517.1:p.Arg96=
ENST00000686459.1:c.388C= ENSP00000508909.1:p.Arg130=
ENST00000688158.1:c.*499C= ENSP00000509254.1:n.*499C=
ENST00000688158.2:n.1123C=
ENST00000688308.1:c.388C= ENSP00000508752.1:p.Arg130=
ENST00000688922.1:c.309C=
ENST00000688922.2:c.*218C= ENSP00000508742.2:n.*218C=
ENST00000693560.1:c.907C= ENSP00000509861.1:p.Arg303=
ENST00000700021.1:c.343C= ENSP00000514757.1:p.Arg115=
ENST00000700022.1:c.388C= ENSP00000514758.1:p.Arg130=
ENST00000700029.1:c.222C=
ENST00000700029.2:c.388C= ENSP00000514759.2:p.Arg130=
ENST00000706954.1:c.388C= ENSP00000516674.1:p.Arg130=
ENST00000706955.1:c.*423C= ENSP00000516675.1:n.*423C=
ENST00000710265.1:c.388C= ENSP00000518161.1:p.Arg130=
XM_006717926.2:c.343C= XP_006717989.1:p.Arg115=
XM_011539981.1:c.388C= XP_011538283.1:p.Arg130=
XM_011539982.1:c.292C= XP_011538284.1:p.Arg98=
XR_945789.1:n.1100C=
XR_945790.1:n.1100C=
XR_945791.1:n.1100C=