Canonical Allele Identifier: CA377487407

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1806618
• ClinVar RCV Id: RCV002474047 ; RCV003289516
• MyVariant Identifiers: chr10:g.89725186A>G (hg19) ; chr10:g.87965429A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965429A>G , CM000672.2:g.87965429A>G	GRCh38
NC_000010.10:g.89725186A>G , CM000672.1:g.89725186A>G	GRCh37
NC_000010.9:g.89715166A>G	NCBI36
NG_007466.2:g.106991A>G , LRG_311:g.106991A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1262A>G	ENSP00000514759.2:p.Glu421Gly
ENST00000710265.1:c.*198A>G	ENSP00000518161.1:n.*198A>G
ENST00000688158.2:n.1904A>G
ENST00000688922.2:c.*999A>G	ENSP00000508742.2:n.*999A>G
ENST00000700021.1:c.1124A>G	ENSP00000514757.1:p.Glu375Gly
ENST00000700022.1:c.*508A>G	ENSP00000514758.1:n.*508A>G
ENST00000700023.1:n.2327A>G
ENST00000700024.1:n.2561A>G
ENST00000706954.1:c.1169A>G	ENSP00000516674.1:p.Glu390Gly
ENST00000706955.1:c.*1204A>G	ENSP00000516675.1:n.*1204A>G
ENST00000686459.1:c.*755A>G	ENSP00000508909.1:n.*755A>G
ENST00000688158.1:c.*1280A>G	ENSP00000509254.1:n.*1280A>G
ENST00000688308.1:c.1169A>G	ENSP00000508752.1:p.Glu390Gly
ENST00000688922.1:c.1090A>G
ENST00000693560.1:c.1688A>G	ENSP00000509861.1:p.Glu563Gly
ENST00000371953.8:c.1169A>G MANE Select	ENSP00000361021.3:p.Glu390Gly
ENST00000371953.7:c.1169A>G	ENSP00000361021.3:p.Glu390Gly
NM_000314.5:c.1169A>G	NP_000305.3:p.Glu390Gly
NM_000314.6:c.1169A>G	NP_000305.3:p.Glu390Gly
NM_001304717.2:c.1688A>G	NP_001291646.2:p.Glu563Gly
NM_001304718.1:c.578A>G	NP_001291647.1:p.Glu193Gly
XM_006717926.2:c.1124A>G	XP_006717989.1:p.Glu375Gly
XM_011539982.1:c.1073A>G	XP_011538284.1:p.Glu358Gly
XR_945791.1:n.1739A>G
NM_000314.7:c.1169A>G	NP_000305.3:p.Glu390Gly
NM_001304717.5:c.1688A>G	NP_001291646.4:p.Glu563Gly
NM_001304718.2:c.578A>G	NP_001291647.1:p.Glu193Gly
NM_000314.8:c.1169A>G MANE Select	NP_000305.3:p.Glu390Gly