Canonical Allele Identifier: CA16605996

Gene: PTEN

Linked Data

• ClinVar Variation Id: 391233
• ClinVar RCV Id: RCV000428701 ; RCV003619679
• dbSNP Id: rs1057524010
• MyVariant Identifiers: chr10:g.89725187A>G (hg19) ; chr10:g.87965430A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965430A>G , CM000672.2:g.87965430A>G	GRCh38
NC_000010.10:g.89725187A>G , CM000672.1:g.89725187A>G	GRCh37
NC_000010.9:g.89715167A>G	NCBI36
NG_007466.2:g.106992A>G , LRG_311:g.106992A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1263A>G	ENSP00000514759.2:p.Glu421=
ENST00000710265.1:c.*199A>G	ENSP00000518161.1:n.*199A>G
ENST00000688158.2:n.1905A>G
ENST00000688922.2:c.*1000A>G	ENSP00000508742.2:n.*1000A>G
ENST00000700021.1:c.1125A>G	ENSP00000514757.1:p.Glu375=
ENST00000700022.1:c.*509A>G	ENSP00000514758.1:n.*509A>G
ENST00000700023.1:n.2328A>G
ENST00000700024.1:n.2562A>G
ENST00000706954.1:c.1170A>G	ENSP00000516674.1:p.Glu390=
ENST00000706955.1:c.*1205A>G	ENSP00000516675.1:n.*1205A>G
ENST00000686459.1:c.*756A>G	ENSP00000508909.1:n.*756A>G
ENST00000688158.1:c.*1281A>G	ENSP00000509254.1:n.*1281A>G
ENST00000688308.1:c.1170A>G	ENSP00000508752.1:p.Glu390=
ENST00000688922.1:c.1091A>G
ENST00000693560.1:c.1689A>G	ENSP00000509861.1:p.Glu563=
ENST00000371953.8:c.1170A>G MANE Select	ENSP00000361021.3:p.Glu390=
ENST00000371953.7:c.1170A>G	ENSP00000361021.3:p.Glu390=
NM_000314.5:c.1170A>G	NP_000305.3:p.Glu390=
NM_000314.6:c.1170A>G	NP_000305.3:p.Glu390=
NM_001304717.2:c.1689A>G	NP_001291646.2:p.Glu563=
NM_001304718.1:c.579A>G	NP_001291647.1:p.Glu193=
XM_006717926.2:c.1125A>G	XP_006717989.1:p.Glu375=
XM_011539982.1:c.1074A>G	XP_011538284.1:p.Glu358=
XR_945791.1:n.1740A>G
NM_000314.7:c.1170A>G	NP_000305.3:p.Glu390=
NM_001304717.5:c.1689A>G	NP_001291646.4:p.Glu563=
NM_001304718.2:c.579A>G	NP_001291647.1:p.Glu193=
NM_000314.8:c.1170A>G MANE Select	NP_000305.3:p.Glu390=