Canonical Allele Identifier: CA377487456

Gene: PTEN

Linked Data

• ClinVar Variation Id: 818542
• ClinVar RCV Id: RCV001010231 ; RCV003619734 ; RCV002479203
• dbSNP Id: rs1589669413
• gnomAD v4: 10-87965449-C-T
• COSMIC: COSM5061
• MyVariant Identifiers: chr10:g.89725206C>T (hg19) ; chr10:g.87965449C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965449C>T , CM000672.2:g.87965449C>T	GRCh38
NC_000010.10:g.89725206C>T , CM000672.1:g.89725206C>T	GRCh37
NC_000010.9:g.89715186C>T	NCBI36
NG_007466.2:g.107011C>T , LRG_311:g.107011C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1282C>T	ENSP00000514759.2:p.His428Tyr
ENST00000710265.1:c.*218C>T	ENSP00000518161.1:n.*218C>T
ENST00000688158.2:n.1924C>T
ENST00000688922.2:c.*1019C>T	ENSP00000508742.2:n.*1019C>T
ENST00000700021.1:c.1144C>T	ENSP00000514757.1:p.His382Tyr
ENST00000700022.1:c.*528C>T	ENSP00000514758.1:n.*528C>T
ENST00000700023.1:n.2347C>T
ENST00000700024.1:n.2581C>T
ENST00000706954.1:c.1189C>T	ENSP00000516674.1:p.His397Tyr
ENST00000706955.1:c.*1224C>T	ENSP00000516675.1:n.*1224C>T
ENST00000686459.1:c.*775C>T	ENSP00000508909.1:n.*775C>T
ENST00000688158.1:c.*1300C>T	ENSP00000509254.1:n.*1300C>T
ENST00000688308.1:c.1189C>T	ENSP00000508752.1:p.His397Tyr
ENST00000688922.1:c.1110C>T
ENST00000693560.1:c.1708C>T	ENSP00000509861.1:p.His570Tyr
ENST00000371953.8:c.1189C>T MANE Select	ENSP00000361021.3:p.His397Tyr
ENST00000371953.7:c.1189C>T	ENSP00000361021.3:p.His397Tyr
NM_000314.5:c.1189C>T	NP_000305.3:p.His397Tyr
NM_000314.6:c.1189C>T	NP_000305.3:p.His397Tyr
NM_001304717.2:c.1708C>T	NP_001291646.2:p.His570Tyr
NM_001304718.1:c.598C>T	NP_001291647.1:p.His200Tyr
XM_006717926.2:c.1144C>T	XP_006717989.1:p.His382Tyr
XM_011539982.1:c.1093C>T	XP_011538284.1:p.His365Tyr
XR_945791.1:n.1759C>T
NM_000314.7:c.1189C>T	NP_000305.3:p.His397Tyr
NM_001304717.5:c.1708C>T	NP_001291646.4:p.His570Tyr
NM_001304718.2:c.598C>T	NP_001291647.1:p.His200Tyr
NM_000314.8:c.1189C>T MANE Select	NP_000305.3:p.His397Tyr