Canonical Allele Identifier: CA377487304

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2682052
• ClinVar RCV Id: RCV003477344
• dbSNP Id: rs2132289872
• MyVariant Identifiers: chr10:g.89725143C>G (hg19) ; chr10:g.87965386C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965386C>G , CM000672.2:g.87965386C>G	GRCh38
NC_000010.10:g.89725143C>G , CM000672.1:g.89725143C>G	GRCh37
NC_000010.9:g.89715123C>G	NCBI36
NG_007466.2:g.106948C>G , LRG_311:g.106948C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1219C>G	ENSP00000514759.2:p.His407Asp
ENST00000710265.1:c.*155C>G	ENSP00000518161.1:n.*155C>G
ENST00000688158.2:n.1861C>G
ENST00000688922.2:c.*956C>G	ENSP00000508742.2:n.*956C>G
ENST00000700021.1:c.1081C>G	ENSP00000514757.1:p.His361Asp
ENST00000700022.1:c.*465C>G	ENSP00000514758.1:n.*465C>G
ENST00000700023.1:n.2284C>G
ENST00000700024.1:n.2518C>G
ENST00000706954.1:c.1126C>G	ENSP00000516674.1:p.His376Asp
ENST00000706955.1:c.*1161C>G	ENSP00000516675.1:n.*1161C>G
ENST00000686459.1:c.*712C>G	ENSP00000508909.1:n.*712C>G
ENST00000688158.1:c.*1237C>G	ENSP00000509254.1:n.*1237C>G
ENST00000688308.1:c.1126C>G	ENSP00000508752.1:p.His376Asp
ENST00000688922.1:c.1047C>G
ENST00000693560.1:c.1645C>G	ENSP00000509861.1:p.His549Asp
ENST00000371953.8:c.1126C>G MANE Select	ENSP00000361021.3:p.His376Asp
ENST00000371953.7:c.1126C>G	ENSP00000361021.3:p.His376Asp
NM_000314.5:c.1126C>G	NP_000305.3:p.His376Asp
NM_000314.6:c.1126C>G	NP_000305.3:p.His376Asp
NM_001304717.2:c.1645C>G	NP_001291646.2:p.His549Asp
NM_001304718.1:c.535C>G	NP_001291647.1:p.His179Asp
XM_006717926.2:c.1081C>G	XP_006717989.1:p.His361Asp
XM_011539982.1:c.1030C>G	XP_011538284.1:p.His344Asp
XR_945791.1:n.1696C>G
NM_000314.7:c.1126C>G	NP_000305.3:p.His376Asp
NM_001304717.5:c.1645C>G	NP_001291646.4:p.His549Asp
NM_001304718.2:c.535C>G	NP_001291647.1:p.His179Asp
NM_000314.8:c.1126C>G MANE Select	NP_000305.3:p.His376Asp