Canonical Allele Identifier: CA377487194

Gene: PTEN

Linked Data

• dbSNP Id: rs864622594
• gnomAD v4: 10-87965335-G-A
• MyVariant Identifiers: chr10:g.89725092G>A (hg19) ; chr10:g.87965335G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965335G>A , CM000672.2:g.87965335G>A	GRCh38
NC_000010.10:g.89725092G>A , CM000672.1:g.89725092G>A	GRCh37
NC_000010.9:g.89715072G>A	NCBI36
NG_007466.2:g.106897G>A , LRG_311:g.106897G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1168G>A	ENSP00000514759.2:p.Ala390Thr
ENST00000710265.1:c.*104G>A	ENSP00000518161.1:n.*104G>A
ENST00000688158.2:n.1810G>A
ENST00000688922.2:c.*905G>A	ENSP00000508742.2:n.*905G>A
ENST00000700021.1:c.1030G>A	ENSP00000514757.1:p.Ala344Thr
ENST00000700022.1:c.*414G>A	ENSP00000514758.1:n.*414G>A
ENST00000700023.1:n.2233G>A
ENST00000700024.1:n.2467G>A
ENST00000706954.1:c.1075G>A	ENSP00000516674.1:p.Ala359Thr
ENST00000706955.1:c.*1110G>A	ENSP00000516675.1:n.*1110G>A
ENST00000686459.1:c.*661G>A	ENSP00000508909.1:n.*661G>A
ENST00000688158.1:c.*1186G>A	ENSP00000509254.1:n.*1186G>A
ENST00000688308.1:c.1075G>A	ENSP00000508752.1:p.Ala359Thr
ENST00000688922.1:c.996G>A
ENST00000693560.1:c.1594G>A	ENSP00000509861.1:p.Ala532Thr
ENST00000371953.8:c.1075G>A MANE Select	ENSP00000361021.3:p.Ala359Thr
ENST00000371953.7:c.1075G>A	ENSP00000361021.3:p.Ala359Thr
NM_000314.5:c.1075G>A	NP_000305.3:p.Ala359Thr
NM_000314.6:c.1075G>A	NP_000305.3:p.Ala359Thr
NM_001304717.2:c.1594G>A	NP_001291646.2:p.Ala532Thr
NM_001304718.1:c.484G>A	NP_001291647.1:p.Ala162Thr
XM_006717926.2:c.1030G>A	XP_006717989.1:p.Ala344Thr
XM_011539982.1:c.979G>A	XP_011538284.1:p.Ala327Thr
XR_945791.1:n.1645G>A
NM_000314.7:c.1075G>A	NP_000305.3:p.Ala359Thr
NM_001304717.5:c.1594G>A	NP_001291646.4:p.Ala532Thr
NM_001304718.2:c.484G>A	NP_001291647.1:p.Ala162Thr
NM_000314.8:c.1075G>A MANE Select	NP_000305.3:p.Ala359Thr