Canonical Allele Identifier: CA377487251

Gene: PTEN

Linked Data

• ClinVar Variation Id: 949056
• ClinVar RCV Id: RCV001220435
• dbSNP Id: rs1860736589
• MyVariant Identifiers: chr10:g.89725120A>T (hg19) ; chr10:g.87965363A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965363A>T , CM000672.2:g.87965363A>T	GRCh38
NC_000010.10:g.89725120A>T , CM000672.1:g.89725120A>T	GRCh37
NC_000010.9:g.89715100A>T	NCBI36
NG_007466.2:g.106925A>T , LRG_311:g.106925A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1196A>T	ENSP00000514759.2:p.Asp399Val
ENST00000710265.1:c.*132A>T	ENSP00000518161.1:n.*132A>T
ENST00000688158.2:n.1838A>T
ENST00000688922.2:c.*933A>T	ENSP00000508742.2:n.*933A>T
ENST00000700021.1:c.1058A>T	ENSP00000514757.1:p.Asp353Val
ENST00000700022.1:c.*442A>T	ENSP00000514758.1:n.*442A>T
ENST00000700023.1:n.2261A>T
ENST00000700024.1:n.2495A>T
ENST00000706954.1:c.1103A>T	ENSP00000516674.1:p.Asp368Val
ENST00000706955.1:c.*1138A>T	ENSP00000516675.1:n.*1138A>T
ENST00000686459.1:c.*689A>T	ENSP00000508909.1:n.*689A>T
ENST00000688158.1:c.*1214A>T	ENSP00000509254.1:n.*1214A>T
ENST00000688308.1:c.1103A>T	ENSP00000508752.1:p.Asp368Val
ENST00000688922.1:c.1024A>T
ENST00000693560.1:c.1622A>T	ENSP00000509861.1:p.Asp541Val
ENST00000371953.8:c.1103A>T MANE Select	ENSP00000361021.3:p.Asp368Val
ENST00000371953.7:c.1103A>T	ENSP00000361021.3:p.Asp368Val
NM_000314.5:c.1103A>T	NP_000305.3:p.Asp368Val
NM_000314.6:c.1103A>T	NP_000305.3:p.Asp368Val
NM_001304717.2:c.1622A>T	NP_001291646.2:p.Asp541Val
NM_001304718.1:c.512A>T	NP_001291647.1:p.Asp171Val
XM_006717926.2:c.1058A>T	XP_006717989.1:p.Asp353Val
XM_011539982.1:c.1007A>T	XP_011538284.1:p.Asp336Val
XR_945791.1:n.1673A>T
NM_000314.7:c.1103A>T	NP_000305.3:p.Asp368Val
NM_001304717.5:c.1622A>T	NP_001291646.4:p.Asp541Val
NM_001304718.2:c.512A>T	NP_001291647.1:p.Asp171Val
NM_000314.8:c.1103A>T MANE Select	NP_000305.3:p.Asp368Val