Canonical Allele Identifier: CA059151

Gene: PTEN

Linked Data

• dbSNP Id: rs750585255
• ExAC: 10:89725105 C / A
• gnomAD v2: 10-89725105-C-A
• gnomAD v4: 10-87965348-C-A
• MyVariant Identifiers: chr10:g.89725105C>A (hg19) ; chr10:g.87965348C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965348C>A , CM000672.2:g.87965348C>A	GRCh38
NC_000010.10:g.89725105C>A , CM000672.1:g.89725105C>A	GRCh37
NC_000010.9:g.89715085C>A	NCBI36
NG_007466.2:g.106910C>A , LRG_311:g.106910C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1181C>A	ENSP00000514759.2:p.Thr394Asn
ENST00000710265.1:c.*117C>A	ENSP00000518161.1:n.*117C>A
ENST00000688158.2:n.1823C>A
ENST00000688922.2:c.*918C>A	ENSP00000508742.2:n.*918C>A
ENST00000700021.1:c.1043C>A	ENSP00000514757.1:p.Thr348Asn
ENST00000700022.1:c.*427C>A	ENSP00000514758.1:n.*427C>A
ENST00000700023.1:n.2246C>A
ENST00000700024.1:n.2480C>A
ENST00000706954.1:c.1088C>A	ENSP00000516674.1:p.Thr363Asn
ENST00000706955.1:c.*1123C>A	ENSP00000516675.1:n.*1123C>A
ENST00000686459.1:c.*674C>A	ENSP00000508909.1:n.*674C>A
ENST00000688158.1:c.*1199C>A	ENSP00000509254.1:n.*1199C>A
ENST00000688308.1:c.1088C>A	ENSP00000508752.1:p.Thr363Asn
ENST00000688922.1:c.1009C>A
ENST00000693560.1:c.1607C>A	ENSP00000509861.1:p.Thr536Asn
ENST00000371953.8:c.1088C>A MANE Select	ENSP00000361021.3:p.Thr363Asn
ENST00000371953.7:c.1088C>A	ENSP00000361021.3:p.Thr363Asn
NM_000314.5:c.1088C>A	NP_000305.3:p.Thr363Asn
NM_000314.6:c.1088C>A	NP_000305.3:p.Thr363Asn
NM_001304717.2:c.1607C>A	NP_001291646.2:p.Thr536Asn
NM_001304718.1:c.497C>A	NP_001291647.1:p.Thr166Asn
XM_006717926.2:c.1043C>A	XP_006717989.1:p.Thr348Asn
XM_011539982.1:c.992C>A	XP_011538284.1:p.Thr331Asn
XR_945791.1:n.1658C>A
NM_000314.7:c.1088C>A	NP_000305.3:p.Thr363Asn
NM_001304717.5:c.1607C>A	NP_001291646.4:p.Thr536Asn
NM_001304718.2:c.497C>A	NP_001291647.1:p.Thr166Asn
NM_000314.8:c.1088C>A MANE Select	NP_000305.3:p.Thr363Asn