Canonical Allele Identifier: CA394704280

Gene: USP7

Linked Data

• ClinVar Variation Id: 440942
• ClinVar RCV Id: RCV000509482 ; RCV001175170
• dbSNP Id: rs1555465642
• MyVariant Identifiers: chr16:g.9012933C>T (hg19) ; chr16:g.8919076C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8919076C>T , CM000678.2:g.8919076C>T	GRCh38
NC_000016.9:g.9012933C>T , CM000678.1:g.9012933C>T	GRCh37
NC_000016.8:g.8920434C>T	NCBI36
NG_046847.1:g.49409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700579.1:n.710G>A
ENST00000344836.9:c.675G>A MANE Select	ENSP00000343535.4:p.Met225Ile
ENST00000673704.1:c.780G>A	ENSP00000501290.1:p.Met260Ile
ENST00000344836.8:c.675G>A	ENSP00000343535.4:p.Met225Ile
ENST00000381886.8:c.627G>A	ENSP00000371310.4:p.Met209Ile
ENST00000542333.5:c.501G>A	ENSP00000439272.1:p.Met167Ile
ENST00000563085.5:c.378G>A	ENSP00000454795.1:p.Met126Ile
ENST00000563961.5:c.*260G>A	ENSP00000454362.1:n.*260G>A
ENST00000565455.5:c.*658G>A	ENSP00000456258.1:n.*658G>A
NM_001286457.1:c.627G>A	NP_001273386.1:p.Met209Ile
NM_001286458.1:c.378G>A	NP_001273387.1:p.Met126Ile
NM_003470.2:c.675G>A	NP_003461.2:p.Met225Ile
NM_001321858.1:c.501G>A	NP_001308787.1:p.Met167Ile
NR_135826.1:n.697G>A
XM_017023652.1:c.675G>A	XP_016879141.1:p.Met225Ile
XM_017023653.2:c.627G>A	XP_016879142.1:p.Met209Ile
NM_003470.3:c.675G>A MANE Select	NP_003461.2:p.Met225Ile
NM_001286457.2:c.627G>A	NP_001273386.2:p.Met209Ile
NM_001286458.2:c.378G>A	NP_001273387.1:p.Met126Ile
NM_001321858.2:c.501G>A	NP_001308787.1:p.Met167Ile
NR_135826.2:n.697G>A