Canonical Allele Identifier: CA377487485

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1747840
• ClinVar RCV Id: RCV002349892
• dbSNP Id: rs1860740005
• MyVariant Identifiers: chr10:g.89725219C>A (hg19) ; chr10:g.87965462C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965462C>A , CM000672.2:g.87965462C>A	GRCh38
NC_000010.10:g.89725219C>A , CM000672.1:g.89725219C>A	GRCh37
NC_000010.9:g.89715199C>A	NCBI36
NG_007466.2:g.107024C>A , LRG_311:g.107024C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1295C>A	ENSP00000514759.2:p.Thr432Lys
ENST00000710265.1:c.*231C>A	ENSP00000518161.1:n.*231C>A
ENST00000688158.2:n.1937C>A
ENST00000688922.2:c.*1032C>A	ENSP00000508742.2:n.*1032C>A
ENST00000700021.1:c.1157C>A	ENSP00000514757.1:p.Thr386Lys
ENST00000700022.1:c.*541C>A	ENSP00000514758.1:n.*541C>A
ENST00000700023.1:n.2360C>A
ENST00000700024.1:n.2594C>A
ENST00000706954.1:c.1202C>A	ENSP00000516674.1:p.Thr401Lys
ENST00000706955.1:c.*1237C>A	ENSP00000516675.1:n.*1237C>A
ENST00000686459.1:c.*788C>A	ENSP00000508909.1:n.*788C>A
ENST00000688158.1:c.*1313C>A	ENSP00000509254.1:n.*1313C>A
ENST00000688308.1:c.1202C>A	ENSP00000508752.1:p.Thr401Lys
ENST00000688922.1:c.1123C>A
ENST00000693560.1:c.1721C>A	ENSP00000509861.1:p.Thr574Lys
ENST00000371953.8:c.1202C>A MANE Select	ENSP00000361021.3:p.Thr401Lys
ENST00000371953.7:c.1202C>A	ENSP00000361021.3:p.Thr401Lys
NM_000314.5:c.1202C>A	NP_000305.3:p.Thr401Lys
NM_000314.6:c.1202C>A	NP_000305.3:p.Thr401Lys
NM_001304717.2:c.1721C>A	NP_001291646.2:p.Thr574Lys
NM_001304718.1:c.611C>A	NP_001291647.1:p.Thr204Lys
XM_006717926.2:c.1157C>A	XP_006717989.1:p.Thr386Lys
XM_011539982.1:c.1106C>A	XP_011538284.1:p.Thr369Lys
XR_945791.1:n.1772C>A
NM_000314.7:c.1202C>A	NP_000305.3:p.Thr401Lys
NM_001304717.5:c.1721C>A	NP_001291646.4:p.Thr574Lys
NM_001304718.2:c.611C>A	NP_001291647.1:p.Thr204Lys
NM_000314.8:c.1202C>A MANE Select	NP_000305.3:p.Thr401Lys