Canonical Allele Identifier: CA470875612

Gene: PTEN

Linked Data

• ClinVar Variation Id: 468697
• ClinVar RCV Id: RCV000531245 ; RCV000569278
• dbSNP Id: rs1554890388
• gnomAD v4: 10-87864523-G-A
• MyVariant Identifiers: chr10:g.89624280G>A (hg19) ; chr10:g.87864523G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87864523G>A , CM000672.2:g.87864523G>A	GRCh38
NC_000010.10:g.89624280G>A , CM000672.1:g.89624280G>A	GRCh37
NC_000010.9:g.89614260G>A	NCBI36
NG_007466.2:g.6085G>A , LRG_311:g.6085G>A
NG_033079.1:g.3915C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.54G>A	ENSP00000514759.2:p.Glu18=
ENST00000710265.1:c.54G>A	ENSP00000518161.1:p.Glu18=
ENST00000472832.3:c.54G>A	ENSP00000483066.2:p.Glu18=
ENST00000688922.2:c.54G>A	ENSP00000508742.2:p.Glu18=
ENST00000700021.1:c.54G>A	ENSP00000514757.1:p.Glu18=
ENST00000700022.1:c.54G>A	ENSP00000514758.1:p.Glu18=
ENST00000706954.1:c.54G>A	ENSP00000516674.1:p.Glu18=
ENST00000706955.1:c.54G>A	ENSP00000516675.1:p.Glu18=
ENST00000686459.1:c.54G>A	ENSP00000508909.1:p.Glu18=
ENST00000688158.1:c.54G>A	ENSP00000509254.1:p.Glu18=
ENST00000688308.1:c.54G>A	ENSP00000508752.1:p.Glu18=
ENST00000693560.1:c.573G>A	ENSP00000509861.1:p.Glu191=
ENST00000371953.8:c.54G>A MANE Select	ENSP00000361021.3:p.Glu18=
ENST00000371953.7:c.54G>A	ENSP00000361021.3:p.Glu18=
ENST00000462694.1:n.56G>A
ENST00000487939.1:n.75G>A
ENST00000610634.1:c.-49G>A	ENSP00000477517.1:n.-49G>A
ENST00000618586.1:n.23G>A
NM_000314.5:c.54G>A	NP_000305.3:p.Glu18=
NM_000314.6:c.54G>A	NP_000305.3:p.Glu18=
NM_001304717.2:c.573G>A	NP_001291646.2:p.Glu191=
NM_001304718.1:c.-652G>A	NP_001291647.1:n.-652G>A
XM_006717926.2:c.54G>A	XP_006717989.1:p.Glu18=
XM_011539981.1:c.54G>A	XP_011538283.1:p.Glu18=
XR_945789.1:n.766G>A
XR_945790.1:n.766G>A
XR_945791.1:n.766G>A
NM_000314.7:c.54G>A	NP_000305.3:p.Glu18=
NM_001304717.5:c.573G>A	NP_001291646.4:p.Glu191=
NM_001304718.2:c.-652G>A	NP_001291647.1:n.-652G>A
NM_000314.8:c.54G>A MANE Select	NP_000305.3:p.Glu18=