Canonical Allele Identifier: CA377485675

Gene: PTEN

Linked Data

• ClinVar Variation Id: 578559
• ClinVar RCV Id: RCV000701607
• dbSNP Id: rs1564568318
• MyVariant Identifiers: chr10:g.89720721A>G (hg19) ; chr10:g.87960964A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960964A>G , CM000672.2:g.87960964A>G	GRCh38
NC_000010.10:g.89720721A>G , CM000672.1:g.89720721A>G	GRCh37
NC_000010.9:g.89710701A>G	NCBI36
NG_007466.2:g.102526A>G , LRG_311:g.102526A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.965A>G	ENSP00000514759.2:p.Glu322Gly
ENST00000710265.1:c.872A>G	ENSP00000518161.1:p.Glu291Gly
ENST00000472832.3:c.872A>G	ENSP00000483066.2:p.Glu291Gly
ENST00000688158.2:n.1607A>G
ENST00000688922.2:c.*702A>G	ENSP00000508742.2:n.*702A>G
ENST00000700021.1:c.827A>G	ENSP00000514757.1:p.Glu276Gly
ENST00000700022.1:c.*211A>G	ENSP00000514758.1:n.*211A>G
ENST00000700023.1:n.2030A>G
ENST00000700024.1:n.2264A>G
ENST00000700025.1:n.1641A>G
ENST00000700026.1:n.509A>G
ENST00000700029.1:c.799A>G
ENST00000706954.1:c.872A>G	ENSP00000516674.1:p.Glu291Gly
ENST00000706955.1:c.*907A>G	ENSP00000516675.1:n.*907A>G
ENST00000686459.1:c.*458A>G	ENSP00000508909.1:n.*458A>G
ENST00000688158.1:c.*983A>G	ENSP00000509254.1:n.*983A>G
ENST00000688308.1:c.872A>G	ENSP00000508752.1:p.Glu291Gly
ENST00000688922.1:c.793A>G
ENST00000693560.1:c.1391A>G	ENSP00000509861.1:p.Glu464Gly
ENST00000371953.8:c.872A>G MANE Select	ENSP00000361021.3:p.Glu291Gly
ENST00000371953.7:c.872A>G	ENSP00000361021.3:p.Glu291Gly
ENST00000472832.2:c.299A>G	ENSP00000483066.1:p.Glu100Gly
NM_000314.5:c.872A>G	NP_000305.3:p.Glu291Gly
NM_000314.6:c.872A>G	NP_000305.3:p.Glu291Gly
NM_001304717.2:c.1391A>G	NP_001291646.2:p.Glu464Gly
NM_001304718.1:c.281A>G	NP_001291647.1:p.Glu94Gly
XM_006717926.2:c.827A>G	XP_006717989.1:p.Glu276Gly
XM_011539981.1:c.872A>G	XP_011538283.1:p.Glu291Gly
XM_011539982.1:c.776A>G	XP_011538284.1:p.Glu259Gly
XR_945791.1:n.1442A>G
NM_000314.7:c.872A>G	NP_000305.3:p.Glu291Gly
NM_001304717.5:c.1391A>G	NP_001291646.4:p.Glu464Gly
NM_001304718.2:c.281A>G	NP_001291647.1:p.Glu94Gly
NM_000314.8:c.872A>G MANE Select	NP_000305.3:p.Glu291Gly