Canonical Allele Identifier: CA377487461

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1037031
• ClinVar RCV Id: RCV001340123
• dbSNP Id: rs1860739604
• MyVariant Identifiers: chr10:g.89725208T>G (hg19) ; chr10:g.87965451T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965451T>G , CM000672.2:g.87965451T>G	GRCh38
NC_000010.10:g.89725208T>G , CM000672.1:g.89725208T>G	GRCh37
NC_000010.9:g.89715188T>G	NCBI36
NG_007466.2:g.107013T>G , LRG_311:g.107013T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1284T>G	ENSP00000514759.2:p.His428Gln
ENST00000710265.1:c.*220T>G	ENSP00000518161.1:n.*220T>G
ENST00000688158.2:n.1926T>G
ENST00000688922.2:c.*1021T>G	ENSP00000508742.2:n.*1021T>G
ENST00000700021.1:c.1146T>G	ENSP00000514757.1:p.His382Gln
ENST00000700022.1:c.*530T>G	ENSP00000514758.1:n.*530T>G
ENST00000700023.1:n.2349T>G
ENST00000700024.1:n.2583T>G
ENST00000706954.1:c.1191T>G	ENSP00000516674.1:p.His397Gln
ENST00000706955.1:c.*1226T>G	ENSP00000516675.1:n.*1226T>G
ENST00000686459.1:c.*777T>G	ENSP00000508909.1:n.*777T>G
ENST00000688158.1:c.*1302T>G	ENSP00000509254.1:n.*1302T>G
ENST00000688308.1:c.1191T>G	ENSP00000508752.1:p.His397Gln
ENST00000688922.1:c.1112T>G
ENST00000693560.1:c.1710T>G	ENSP00000509861.1:p.His570Gln
ENST00000371953.8:c.1191T>G MANE Select	ENSP00000361021.3:p.His397Gln
ENST00000371953.7:c.1191T>G	ENSP00000361021.3:p.His397Gln
NM_000314.5:c.1191T>G	NP_000305.3:p.His397Gln
NM_000314.6:c.1191T>G	NP_000305.3:p.His397Gln
NM_001304717.2:c.1710T>G	NP_001291646.2:p.His570Gln
NM_001304718.1:c.600T>G	NP_001291647.1:p.His200Gln
XM_006717926.2:c.1146T>G	XP_006717989.1:p.His382Gln
XM_011539982.1:c.1095T>G	XP_011538284.1:p.His365Gln
XR_945791.1:n.1761T>G
NM_000314.7:c.1191T>G	NP_000305.3:p.His397Gln
NM_001304717.5:c.1710T>G	NP_001291646.4:p.His570Gln
NM_001304718.2:c.600T>G	NP_001291647.1:p.His200Gln
NM_000314.8:c.1191T>G MANE Select	NP_000305.3:p.His397Gln