Canonical Allele Identifier: CA377487391

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2587203
• ClinVar RCV Id: RCV003360731
• dbSNP Id: rs2132290147
• MyVariant Identifiers: chr10:g.89725180A>T (hg19) ; chr10:g.87965423A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965423A>T , CM000672.2:g.87965423A>T	GRCh38
NC_000010.10:g.89725180A>T , CM000672.1:g.89725180A>T	GRCh37
NC_000010.9:g.89715160A>T	NCBI36
NG_007466.2:g.106985A>T , LRG_311:g.106985A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1256A>T	ENSP00000514759.2:p.Glu419Val
ENST00000710265.1:c.*192A>T	ENSP00000518161.1:n.*192A>T
ENST00000688158.2:n.1898A>T
ENST00000688922.2:c.*993A>T	ENSP00000508742.2:n.*993A>T
ENST00000700021.1:c.1118A>T	ENSP00000514757.1:p.Glu373Val
ENST00000700022.1:c.*502A>T	ENSP00000514758.1:n.*502A>T
ENST00000700023.1:n.2321A>T
ENST00000700024.1:n.2555A>T
ENST00000706954.1:c.1163A>T	ENSP00000516674.1:p.Glu388Val
ENST00000706955.1:c.*1198A>T	ENSP00000516675.1:n.*1198A>T
ENST00000686459.1:c.*749A>T	ENSP00000508909.1:n.*749A>T
ENST00000688158.1:c.*1274A>T	ENSP00000509254.1:n.*1274A>T
ENST00000688308.1:c.1163A>T	ENSP00000508752.1:p.Glu388Val
ENST00000688922.1:c.1084A>T
ENST00000693560.1:c.1682A>T	ENSP00000509861.1:p.Glu561Val
ENST00000371953.8:c.1163A>T MANE Select	ENSP00000361021.3:p.Glu388Val
ENST00000371953.7:c.1163A>T	ENSP00000361021.3:p.Glu388Val
NM_000314.5:c.1163A>T	NP_000305.3:p.Glu388Val
NM_000314.6:c.1163A>T	NP_000305.3:p.Glu388Val
NM_001304717.2:c.1682A>T	NP_001291646.2:p.Glu561Val
NM_001304718.1:c.572A>T	NP_001291647.1:p.Glu191Val
XM_006717926.2:c.1118A>T	XP_006717989.1:p.Glu373Val
XM_011539982.1:c.1067A>T	XP_011538284.1:p.Glu356Val
XR_945791.1:n.1733A>T
NM_000314.7:c.1163A>T	NP_000305.3:p.Glu388Val
NM_001304717.5:c.1682A>T	NP_001291646.4:p.Glu561Val
NM_001304718.2:c.572A>T	NP_001291647.1:p.Glu191Val
NM_000314.8:c.1163A>T MANE Select	NP_000305.3:p.Glu388Val