Canonical Allele Identifier: CA059144

Gene: PTEN

Linked Data

• ClinVar Variation Id: 484607
• ClinVar RCV Id: RCV000572332 ; RCV000692349
• dbSNP Id: rs765416558
• ExAC: 10:89725104 A / G
• gnomAD v2: 10-89725104-A-G
• gnomAD v4: 10-87965347-A-G
• MyVariant Identifiers: chr10:g.89725104A>G (hg19) ; chr10:g.87965347A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965347A>G , CM000672.2:g.87965347A>G	GRCh38
NC_000010.10:g.89725104A>G , CM000672.1:g.89725104A>G	GRCh37
NC_000010.9:g.89715084A>G	NCBI36
NG_007466.2:g.106909A>G , LRG_311:g.106909A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1180A>G	ENSP00000514759.2:p.Thr394Ala
ENST00000710265.1:c.*116A>G	ENSP00000518161.1:n.*116A>G
ENST00000688158.2:n.1822A>G
ENST00000688922.2:c.*917A>G	ENSP00000508742.2:n.*917A>G
ENST00000700021.1:c.1042A>G	ENSP00000514757.1:p.Thr348Ala
ENST00000700022.1:c.*426A>G	ENSP00000514758.1:n.*426A>G
ENST00000700023.1:n.2245A>G
ENST00000700024.1:n.2479A>G
ENST00000706954.1:c.1087A>G	ENSP00000516674.1:p.Thr363Ala
ENST00000706955.1:c.*1122A>G	ENSP00000516675.1:n.*1122A>G
ENST00000686459.1:c.*673A>G	ENSP00000508909.1:n.*673A>G
ENST00000688158.1:c.*1198A>G	ENSP00000509254.1:n.*1198A>G
ENST00000688308.1:c.1087A>G	ENSP00000508752.1:p.Thr363Ala
ENST00000688922.1:c.1008A>G
ENST00000693560.1:c.1606A>G	ENSP00000509861.1:p.Thr536Ala
ENST00000371953.8:c.1087A>G MANE Select	ENSP00000361021.3:p.Thr363Ala
ENST00000371953.7:c.1087A>G	ENSP00000361021.3:p.Thr363Ala
NM_000314.5:c.1087A>G	NP_000305.3:p.Thr363Ala
NM_000314.6:c.1087A>G	NP_000305.3:p.Thr363Ala
NM_001304717.2:c.1606A>G	NP_001291646.2:p.Thr536Ala
NM_001304718.1:c.496A>G	NP_001291647.1:p.Thr166Ala
XM_006717926.2:c.1042A>G	XP_006717989.1:p.Thr348Ala
XM_011539982.1:c.991A>G	XP_011538284.1:p.Thr331Ala
XR_945791.1:n.1657A>G
NM_000314.7:c.1087A>G	NP_000305.3:p.Thr363Ala
NM_001304717.5:c.1606A>G	NP_001291646.4:p.Thr536Ala
NM_001304718.2:c.496A>G	NP_001291647.1:p.Thr166Ala
NM_000314.8:c.1087A>G MANE Select	NP_000305.3:p.Thr363Ala