Canonical Allele Identifier: CA470662170

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2576378
• ClinVar RCV Id: RCV003322437
• dbSNP Id: rs1057519724
• MyVariant Identifiers: chr10:g.89692993G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933236G>A , CM000672.2:g.87933236G>A	GRCh38
NC_000010.10:g.89692993G>A , CM000672.1:g.89692993G>A	GRCh37
NC_000010.9:g.89682973G>A	NCBI36
NG_007466.2:g.74798G>A , LRG_311:g.74798G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.477G>A	ENSP00000514759.2:p.Arg159=
ENST00000710265.1:c.477G>A	ENSP00000518161.1:p.Arg159=
ENST00000472832.3:c.477G>A	ENSP00000483066.2:p.Arg159=
ENST00000688158.2:n.1212G>A
ENST00000688922.2:c.*307G>A	ENSP00000508742.2:n.*307G>A
ENST00000700021.1:c.432G>A	ENSP00000514757.1:p.Arg144=
ENST00000700022.1:c.477G>A	ENSP00000514758.1:p.Arg159=
ENST00000700029.1:c.311G>A
ENST00000706954.1:c.477G>A	ENSP00000516674.1:p.Arg159=
ENST00000706955.1:c.*512G>A	ENSP00000516675.1:n.*512G>A
ENST00000686459.1:c.477G>A	ENSP00000508909.1:p.Arg159=
ENST00000688158.1:c.*588G>A	ENSP00000509254.1:n.*588G>A
ENST00000688308.1:c.477G>A	ENSP00000508752.1:p.Arg159=
ENST00000688922.1:c.398G>A
ENST00000693560.1:c.996G>A	ENSP00000509861.1:p.Arg332=
ENST00000371953.8:c.477G>A MANE Select	ENSP00000361021.3:p.Arg159=
ENST00000371953.7:c.477G>A	ENSP00000361021.3:p.Arg159=
ENST00000498703.1:n.303G>A
ENST00000610634.1:c.375G>A	ENSP00000477517.1:p.Arg125=
NM_000314.5:c.477G>A	NP_000305.3:p.Arg159=
NM_000314.6:c.477G>A	NP_000305.3:p.Arg159=
NM_001304717.2:c.996G>A	NP_001291646.2:p.Arg332=
NM_001304718.1:c.-274G>A	NP_001291647.1:n.-274G>A
XM_006717926.2:c.432G>A	XP_006717989.1:p.Arg144=
XM_011539981.1:c.477G>A	XP_011538283.1:p.Arg159=
XM_011539982.1:c.381G>A	XP_011538284.1:p.Arg127=
XR_945789.1:n.1189G>A
XR_945790.1:n.1189G>A
XR_945791.1:n.1189G>A
NM_000314.7:c.477G>A	NP_000305.3:p.Arg159=
NM_001304717.5:c.996G>A	NP_001291646.4:p.Arg332=
NM_001304718.2:c.-274G>A	NP_001291647.1:n.-274G>A
NM_000314.8:c.477G>A MANE Select	NP_000305.3:p.Arg159=