Canonical Allele Identifier: CA340620266

Gene: USP1

Linked Data

• gnomAD v4: 1-62447427-T-G
• MyVariant Identifiers: chr1:g.62913098T>G (hg19) ; chr1:g.62447427T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.62447427T>G , CM000663.2:g.62447427T>G	GRCh38
NC_000001.10:g.62913098T>G , CM000663.1:g.62913098T>G	GRCh37
NC_000001.9:g.62685686T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339950.5:c.1336T>G MANE Select	ENSP00000343526.4:p.Leu446Val
ENST00000339950.4:c.1336T>G	ENSP00000343526.4:p.Leu446Val
ENST00000371146.5:c.1336T>G	ENSP00000360188.1:p.Leu446Val
NM_001017415.1:c.1336T>G	NP_001017415.1:p.Leu446Val
NM_001017416.1:c.1336T>G	NP_001017416.1:p.Leu446Val
NM_003368.4:c.1336T>G	NP_003359.3:p.Leu446Val
NM_003368.5:c.1336T>G MANE Select	NP_003359.3:p.Leu446Val
NM_001017415.2:c.1336T>G	NP_001017415.1:p.Leu446Val
NM_001017416.2:c.1336T>G	NP_001017416.1:p.Leu446Val