Canonical Allele Identifier: CA000541

Gene: PTEN

Linked Data

• ClinVar Variation Id: 189528
• ClinVar RCV Id: RCV000764923 ; RCV001711454
• dbSNP Id: rs553371022
• gnomAD v2: 10-89623561-G-A
• gnomAD v3: 10-87863804-G-A
• gnomAD v4: 10-87863804-G-A
• MyVariant Identifiers: chr10:g.89623561G>A (hg19) ; chr10:g.87863804G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863804G>A , CM000672.2:g.87863804G>A	GRCh38
NC_000010.10:g.89623561G>A , CM000672.1:g.89623561G>A	GRCh37
NC_000010.9:g.89613541G>A	NCBI36
NG_007466.2:g.5367G>A , LRG_311:g.5367G>A
NG_033079.1:g.4634C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.-666G>A	ENSP00000514759.2:n.-666G>A
ENST00000710265.1:c.-666G>A	ENSP00000518161.1:n.-666G>A
ENST00000700021.1:c.-666G>A	ENSP00000514757.1:n.-666G>A
ENST00000706953.1:c.96G>A	ENSP00000516673.1:p.Arg32=
ENST00000706954.1:c.-16-650G>A	ENSP00000516674.1:n.-16-650G>A
ENST00000706955.1:c.-666G>A	ENSP00000516675.1:n.-666G>A
ENST00000688158.1:c.-666G>A	ENSP00000509254.1:n.-666G>A
ENST00000688308.1:c.-16-650G>A	ENSP00000508752.1:n.-16-650G>A
ENST00000693560.1:c.-146G>A	ENSP00000509861.1:n.-146G>A
ENST00000371953.8:c.-666G>A MANE Select	ENSP00000361021.3:n.-666G>A
ENST00000371953.7:c.-666G>A	ENSP00000361021.3:n.-666G>A
ENST00000610634.1:c.-768G>A	ENSP00000477517.1:n.-768G>A
NM_000314.5:c.-665G>A	NP_000305.3:n.-665G>A
NM_000314.6:c.-665G>A	NP_000305.3:n.-665G>A
NM_001304717.2:c.-146G>A	NP_001291646.2:n.-146G>A
NM_001304718.1:c.-1370G>A	NP_001291647.1:n.-1370G>A
XM_006717926.2:c.-666G>A	XP_006717989.1:n.-666G>A
XM_011539981.1:c.-666G>A	XP_011538283.1:n.-666G>A
XR_945789.1:n.47G>A
XR_945790.1:n.47G>A
XR_945791.1:n.47G>A
NM_000314.7:c.-665G>A	NP_000305.3:n.-665G>A
NM_001304717.5:c.-146G>A	NP_001291646.4:n.-146G>A
NM_001304718.2:c.-1370G>A	NP_001291647.1:n.-1370G>A
NM_000314.8:c.-666G>A MANE Select	NP_000305.3:n.-666G>A