Canonical Allele Identifier: CA377482278

Gene: PTEN

Linked Data

• ClinVar Variation Id: 428277
• ClinVar RCV Id: RCV000491887 ; RCV000693998 ; RCV001332360
• dbSNP Id: rs786204931
• COSMIC: COSM921088
• MyVariant Identifiers: chr10:g.89692883C>G (hg19) ; chr10:g.87933126C>G (hg38)
• ERepo: CA377482278/MONDO:0017623/003
• PubMed: PMID:9259288 ; PMID:11918710 ; PMID:21828076

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933126C>G , CM000672.2:g.87933126C>G	GRCh38
NC_000010.10:g.89692883C>G , CM000672.1:g.89692883C>G	GRCh37
NC_000010.9:g.89682863C>G	NCBI36
NG_007466.2:g.74688C>G , LRG_311:g.74688C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.367C>G	ENSP00000514759.2:p.His123Asp
ENST00000710265.1:c.367C>G	ENSP00000518161.1:p.His123Asp
ENST00000472832.3:c.367C>G	ENSP00000483066.2:p.His123Asp
ENST00000688158.2:n.1102C>G
ENST00000688922.2:c.*197C>G	ENSP00000508742.2:n.*197C>G
ENST00000700021.1:c.322C>G	ENSP00000514757.1:p.His108Asp
ENST00000700022.1:c.367C>G	ENSP00000514758.1:p.His123Asp
ENST00000700029.1:c.201C>G
ENST00000706954.1:c.367C>G	ENSP00000516674.1:p.His123Asp
ENST00000706955.1:c.*402C>G	ENSP00000516675.1:n.*402C>G
ENST00000686459.1:c.367C>G	ENSP00000508909.1:p.His123Asp
ENST00000688158.1:c.*478C>G	ENSP00000509254.1:n.*478C>G
ENST00000688308.1:c.367C>G	ENSP00000508752.1:p.His123Asp
ENST00000688922.1:c.288C>G
ENST00000693560.1:c.886C>G	ENSP00000509861.1:p.His296Asp
ENST00000371953.8:c.367C>G MANE Select	ENSP00000361021.3:p.His123Asp
ENST00000371953.7:c.367C>G	ENSP00000361021.3:p.His123Asp
ENST00000498703.1:n.193C>G
ENST00000610634.1:c.265C>G	ENSP00000477517.1:p.His89Asp
NM_000314.5:c.367C>G	NP_000305.3:p.His123Asp
NM_000314.6:c.367C>G	NP_000305.3:p.His123Asp
NM_001304717.2:c.886C>G	NP_001291646.2:p.His296Asp
NM_001304718.1:c.-384C>G	NP_001291647.1:n.-384C>G
XM_006717926.2:c.322C>G	XP_006717989.1:p.His108Asp
XM_011539981.1:c.367C>G	XP_011538283.1:p.His123Asp
XM_011539982.1:c.271C>G	XP_011538284.1:p.His91Asp
XR_945789.1:n.1079C>G
XR_945790.1:n.1079C>G
XR_945791.1:n.1079C>G
NM_000314.7:c.367C>G	NP_000305.3:p.His123Asp
NM_001304717.5:c.886C>G	NP_001291646.4:p.His296Asp
NM_001304718.2:c.-384C>G	NP_001291647.1:n.-384C>G
NM_000314.8:c.367C>G MANE Select	NP_000305.3:p.His123Asp