Canonical Allele Identifier: CA394695431
Gene: USP7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8894807T>G , CM000678.2:g.8894807T>G GRCh38
NC_000016.9:g.8988664T>G , CM000678.1:g.8988664T>G GRCh37
NC_000016.8:g.8896165T>G NCBI36
NG_046847.1:g.73678A>C

Transcript Alleles

HGVS Amino-acid Change
NM_003470.3:c.3088A>C MANE Select NP_003461.2:p.Ile1030Leu
ENST00000344836.9:c.3088A>C MANE Select ENSP00000343535.4:p.Ile1030Leu
NM_001286457.1:c.3040A>C NP_001273386.1:p.Ile1014Leu
NM_001286457.2:c.3040A>C NP_001273386.2:p.Ile1014Leu
NM_001286458.1:c.2791A>C NP_001273387.1:p.Ile931Leu
NM_001286458.2:c.2791A>C NP_001273387.1:p.Ile931Leu
NM_001321858.1:c.2914A>C NP_001308787.1:p.Ile972Leu
NM_001321858.2:c.2914A>C NP_001308787.1:p.Ile972Leu
NM_003470.2:c.3088A>C NP_003461.2:p.Ile1030Leu
NR_135826.1:n.3069A>C
NR_135826.2:n.3069A>C
ENST00000344836.8:c.3088A>C ENSP00000343535.4:p.Ile1030Leu
ENST00000381886.8:c.3040A>C ENSP00000371310.4:p.Ile1014Leu
ENST00000563961.5:c.*2673A>C ENSP00000454362.1:n.*2673A>C
ENST00000565455.5:c.*3071A>C ENSP00000456258.1:n.*3071A>C
ENST00000673704.1:c.3193A>C ENSP00000501290.1:p.Ile1065Leu
XM_017023652.1:c.3088A>C XP_016879141.1:p.Ile1030Leu
XM_017023653.2:c.3040A>C XP_016879142.1:p.Ile1014Leu