Canonical Allele Identifier: CA377487486

Gene: PTEN

Linked Data

• ClinVar Variation Id: 847238
• ClinVar RCV Id: RCV001050741
• dbSNP Id: rs1860740005
• COSMIC: COSM5124
• MyVariant Identifiers: chr10:g.89725219C>T (hg19) ; chr10:g.87965462C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1295C>T	ENSP00000514759.2:p.Thr432Ile
ENST00000710265.1:c.*231C>T	ENSP00000518161.1:n.*231C>T
ENST00000688158.2:n.1937C>T
ENST00000688922.2:c.*1032C>T	ENSP00000508742.2:n.*1032C>T
ENST00000700021.1:c.1157C>T	ENSP00000514757.1:p.Thr386Ile
ENST00000700022.1:c.*541C>T	ENSP00000514758.1:n.*541C>T
ENST00000700023.1:n.2360C>T
ENST00000700024.1:n.2594C>T
ENST00000706954.1:c.1202C>T	ENSP00000516674.1:p.Thr401Ile
ENST00000706955.1:c.*1237C>T	ENSP00000516675.1:n.*1237C>T
ENST00000686459.1:c.*788C>T	ENSP00000508909.1:n.*788C>T
ENST00000688158.1:c.*1313C>T	ENSP00000509254.1:n.*1313C>T
ENST00000688308.1:c.1202C>T	ENSP00000508752.1:p.Thr401Ile
ENST00000688922.1:c.1123C>T
ENST00000693560.1:c.1721C>T	ENSP00000509861.1:p.Thr574Ile
ENST00000371953.8:c.1202C>T MANE Select	ENSP00000361021.3:p.Thr401Ile
ENST00000371953.7:c.1202C>T	ENSP00000361021.3:p.Thr401Ile
NM_000314.5:c.1202C>T	NP_000305.3:p.Thr401Ile
NM_000314.6:c.1202C>T	NP_000305.3:p.Thr401Ile
NM_001304717.2:c.1721C>T	NP_001291646.2:p.Thr574Ile
NM_001304718.1:c.611C>T	NP_001291647.1:p.Thr204Ile
XM_006717926.2:c.1157C>T	XP_006717989.1:p.Thr386Ile
XM_011539982.1:c.1106C>T	XP_011538284.1:p.Thr369Ile
XR_945791.1:n.1772C>T
NM_000314.7:c.1202C>T	NP_000305.3:p.Thr401Ile
NM_001304717.5:c.1721C>T	NP_001291646.4:p.Thr574Ile
NM_001304718.2:c.611C>T	NP_001291647.1:p.Thr204Ile
NM_000314.8:c.1202C>T MANE Select	NP_000305.3:p.Thr401Ile