Canonical Allele Identifier: CA000109

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965322G>A , CM000672.2:g.87965322G>A	GRCh38
NC_000010.10:g.89725079G>A , CM000672.1:g.89725079G>A	GRCh37
NC_000010.9:g.89715059G>A	NCBI36
NG_007466.2:g.106884G>A , LRG_311:g.106884G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.1062G>A MANE Select	NP_000305.3:p.Pro354=
ENST00000371953.8:c.1062G>A MANE Select	ENSP00000361021.3:p.Pro354=
NM_000314.5:c.1062G>A	NP_000305.3:p.Pro354=
NM_000314.6:c.1062G>A	NP_000305.3:p.Pro354=
NM_000314.7:c.1062G>A	NP_000305.3:p.Pro354=
NM_001304717.2:c.1581G>A	NP_001291646.2:p.Pro527=
NM_001304717.5:c.1581G>A	NP_001291646.4:p.Pro527=
NM_001304718.1:c.471G>A	NP_001291647.1:p.Pro157=
NM_001304718.2:c.471G>A	NP_001291647.1:p.Pro157=
ENST00000371953.7:c.1062G>A	ENSP00000361021.3:p.Pro354=
ENST00000686459.1:c.*648G>A	ENSP00000508909.1:n.*648G>A
ENST00000688158.1:c.*1173G>A	ENSP00000509254.1:n.*1173G>A
ENST00000688158.2:n.1797G>A
ENST00000688308.1:c.1062G>A	ENSP00000508752.1:p.Pro354=
ENST00000688922.1:c.983G>A
ENST00000688922.2:c.*892G>A	ENSP00000508742.2:n.*892G>A
ENST00000693560.1:c.1581G>A	ENSP00000509861.1:p.Pro527=
ENST00000700021.1:c.1017G>A	ENSP00000514757.1:p.Pro339=
ENST00000700022.1:c.*401G>A	ENSP00000514758.1:n.*401G>A
ENST00000700023.1:n.2220G>A
ENST00000700024.1:n.2454G>A
ENST00000700029.2:c.1155G>A	ENSP00000514759.2:p.Pro385=
ENST00000706954.1:c.1062G>A	ENSP00000516674.1:p.Pro354=
ENST00000706955.1:c.*1097G>A	ENSP00000516675.1:n.*1097G>A
ENST00000710265.1:c.*91G>A	ENSP00000518161.1:n.*91G>A
XM_006717926.2:c.1017G>A	XP_006717989.1:p.Pro339=
XM_011539982.1:c.966G>A	XP_011538284.1:p.Pro322=
XR_945791.1:n.1632G>A