Canonical Allele Identifier: CA377487274

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1503862
• ClinVar RCV Id: RCV002025764
• dbSNP Id: rs2132289789
• MyVariant Identifiers: chr10:g.89725131A>G (hg19) ; chr10:g.87965374A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965374A>G , CM000672.2:g.87965374A>G	GRCh38
NC_000010.10:g.89725131A>G , CM000672.1:g.89725131A>G	GRCh37
NC_000010.9:g.89715111A>G	NCBI36
NG_007466.2:g.106936A>G , LRG_311:g.106936A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1207A>G	ENSP00000514759.2:p.Asn403Asp
ENST00000710265.1:c.*143A>G	ENSP00000518161.1:n.*143A>G
ENST00000688158.2:n.1849A>G
ENST00000688922.2:c.*944A>G	ENSP00000508742.2:n.*944A>G
ENST00000700021.1:c.1069A>G	ENSP00000514757.1:p.Asn357Asp
ENST00000700022.1:c.*453A>G	ENSP00000514758.1:n.*453A>G
ENST00000700023.1:n.2272A>G
ENST00000700024.1:n.2506A>G
ENST00000706954.1:c.1114A>G	ENSP00000516674.1:p.Asn372Asp
ENST00000706955.1:c.*1149A>G	ENSP00000516675.1:n.*1149A>G
ENST00000686459.1:c.*700A>G	ENSP00000508909.1:n.*700A>G
ENST00000688158.1:c.*1225A>G	ENSP00000509254.1:n.*1225A>G
ENST00000688308.1:c.1114A>G	ENSP00000508752.1:p.Asn372Asp
ENST00000688922.1:c.1035A>G
ENST00000693560.1:c.1633A>G	ENSP00000509861.1:p.Asn545Asp
ENST00000371953.8:c.1114A>G MANE Select	ENSP00000361021.3:p.Asn372Asp
ENST00000371953.7:c.1114A>G	ENSP00000361021.3:p.Asn372Asp
NM_000314.5:c.1114A>G	NP_000305.3:p.Asn372Asp
NM_000314.6:c.1114A>G	NP_000305.3:p.Asn372Asp
NM_001304717.2:c.1633A>G	NP_001291646.2:p.Asn545Asp
NM_001304718.1:c.523A>G	NP_001291647.1:p.Asn175Asp
XM_006717926.2:c.1069A>G	XP_006717989.1:p.Asn357Asp
XM_011539982.1:c.1018A>G	XP_011538284.1:p.Asn340Asp
XR_945791.1:n.1684A>G
NM_000314.7:c.1114A>G	NP_000305.3:p.Asn372Asp
NM_001304717.5:c.1633A>G	NP_001291646.4:p.Asn545Asp
NM_001304718.2:c.523A>G	NP_001291647.1:p.Asn175Asp
NM_000314.8:c.1114A>G MANE Select	NP_000305.3:p.Asn372Asp