Canonical Allele Identifier: CA340619466

Gene: USP1

Linked Data

• gnomAD v4: 1-62447346-G-A
• MyVariant Identifiers: chr1:g.62913017G>A (hg19) ; chr1:g.62447346G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.62447346G>A , CM000663.2:g.62447346G>A	GRCh38
NC_000001.10:g.62913017G>A , CM000663.1:g.62913017G>A	GRCh37
NC_000001.9:g.62685605G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339950.5:c.1255G>A MANE Select	ENSP00000343526.4:p.Glu419Lys
ENST00000339950.4:c.1255G>A	ENSP00000343526.4:p.Glu419Lys
ENST00000371146.5:c.1255G>A	ENSP00000360188.1:p.Glu419Lys
NM_001017415.1:c.1255G>A	NP_001017415.1:p.Glu419Lys
NM_001017416.1:c.1255G>A	NP_001017416.1:p.Glu419Lys
NM_003368.4:c.1255G>A	NP_003359.3:p.Glu419Lys
NM_003368.5:c.1255G>A MANE Select	NP_003359.3:p.Glu419Lys
NM_001017415.2:c.1255G>A	NP_001017415.1:p.Glu419Lys
NM_001017416.2:c.1255G>A	NP_001017416.1:p.Glu419Lys