Canonical Allele Identifier: CA060752

Gene: PTEN

Linked Data

• ClinVar Variation Id: 233644
• ClinVar RCV Id: RCV000220280 ; RCV000470747 ; RCV000508465 ; RCV001722198
• dbSNP Id: rs529155918
• ExAC: 10:89720719 A / G
• gnomAD v2: 10-89720719-A-G
• gnomAD v3: 10-87960962-A-G
• gnomAD v4: 10-87960962-A-G
• MyVariant Identifiers: chr10:g.89720719A>G (hg19) ; chr10:g.87960962A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960962A>G , CM000672.2:g.87960962A>G	GRCh38
NC_000010.10:g.89720719A>G , CM000672.1:g.89720719A>G	GRCh37
NC_000010.9:g.89710699A>G	NCBI36
NG_007466.2:g.102524A>G , LRG_311:g.102524A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.963A>G	ENSP00000514759.2:p.Val321=
ENST00000710265.1:c.870A>G	ENSP00000518161.1:p.Val290=
ENST00000472832.3:c.870A>G	ENSP00000483066.2:p.Val290=
ENST00000688158.2:n.1605A>G
ENST00000688922.2:c.*700A>G	ENSP00000508742.2:n.*700A>G
ENST00000700021.1:c.825A>G	ENSP00000514757.1:p.Val275=
ENST00000700022.1:c.*209A>G	ENSP00000514758.1:n.*209A>G
ENST00000700023.1:n.2028A>G
ENST00000700024.1:n.2262A>G
ENST00000700025.1:n.1639A>G
ENST00000700026.1:n.507A>G
ENST00000700029.1:c.797A>G
ENST00000706954.1:c.870A>G	ENSP00000516674.1:p.Val290=
ENST00000706955.1:c.*905A>G	ENSP00000516675.1:n.*905A>G
ENST00000686459.1:c.*456A>G	ENSP00000508909.1:n.*456A>G
ENST00000688158.1:c.*981A>G	ENSP00000509254.1:n.*981A>G
ENST00000688308.1:c.870A>G	ENSP00000508752.1:p.Val290=
ENST00000688922.1:c.791A>G
ENST00000693560.1:c.1389A>G	ENSP00000509861.1:p.Val463=
ENST00000371953.8:c.870A>G MANE Select	ENSP00000361021.3:p.Val290=
ENST00000371953.7:c.870A>G	ENSP00000361021.3:p.Val290=
ENST00000472832.2:c.297A>G	ENSP00000483066.1:p.Val99=
NM_000314.5:c.870A>G	NP_000305.3:p.Val290=
NM_000314.6:c.870A>G	NP_000305.3:p.Val290=
NM_001304717.2:c.1389A>G	NP_001291646.2:p.Val463=
NM_001304718.1:c.279A>G	NP_001291647.1:p.Val93=
XM_006717926.2:c.825A>G	XP_006717989.1:p.Val275=
XM_011539981.1:c.870A>G	XP_011538283.1:p.Val290=
XM_011539982.1:c.774A>G	XP_011538284.1:p.Val258=
XR_945791.1:n.1440A>G
NM_000314.7:c.870A>G	NP_000305.3:p.Val290=
NM_001304717.5:c.1389A>G	NP_001291646.4:p.Val463=
NM_001304718.2:c.279A>G	NP_001291647.1:p.Val93=
NM_000314.8:c.870A>G MANE Select	NP_000305.3:p.Val290=