Canonical Allele Identifier: CA340619469

Gene: USP1

Linked Data

• dbSNP Id: rs1223974041
• gnomAD v2: 1-62913018-A-C
• gnomAD v4: 1-62447347-A-C
• MyVariant Identifiers: chr1:g.62913018A>C (hg19) ; chr1:g.62447347A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.62447347A>C , CM000663.2:g.62447347A>C	GRCh38
NC_000001.10:g.62913018A>C , CM000663.1:g.62913018A>C	GRCh37
NC_000001.9:g.62685606A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339950.5:c.1256A>C MANE Select	ENSP00000343526.4:p.Glu419Ala
ENST00000339950.4:c.1256A>C	ENSP00000343526.4:p.Glu419Ala
ENST00000371146.5:c.1256A>C	ENSP00000360188.1:p.Glu419Ala
NM_001017415.1:c.1256A>C	NP_001017415.1:p.Glu419Ala
NM_001017416.1:c.1256A>C	NP_001017416.1:p.Glu419Ala
NM_003368.4:c.1256A>C	NP_003359.3:p.Glu419Ala
NM_003368.5:c.1256A>C MANE Select	NP_003359.3:p.Glu419Ala
NM_001017415.2:c.1256A>C	NP_001017415.1:p.Glu419Ala
NM_001017416.2:c.1256A>C	NP_001017416.1:p.Glu419Ala