Canonical Allele Identifier: CA523751729

Gene: USP1

Linked Data

• dbSNP Id: rs1430052400
• gnomAD v2: 1-62913200-C-T
• gnomAD v4: 1-62447529-C-T
• MyVariant Identifiers: chr1:g.62913200C>T (hg19) ; chr1:g.62447529C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.62447529C>T , CM000663.2:g.62447529C>T	GRCh38
NC_000001.10:g.62913200C>T , CM000663.1:g.62913200C>T	GRCh37
NC_000001.9:g.62685788C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339950.5:c.1420+18C>T MANE Select	ENSP00000343526.4:n.1420+18C>T
ENST00000339950.4:c.1420+18C>T	ENSP00000343526.4:n.1420+18C>T
ENST00000371146.5:c.1420+18C>T	ENSP00000360188.1:n.1420+18C>T
NM_001017415.1:c.1420+18C>T	NP_001017415.1:n.1420+18C>T
NM_001017416.1:c.1420+18C>T	NP_001017416.1:n.1420+18C>T
NM_003368.4:c.1420+18C>T	NP_003359.3:n.1420+18C>T
NM_003368.5:c.1420+18C>T MANE Select	NP_003359.3:n.1420+18C>T
NM_001017415.2:c.1420+18C>T	NP_001017415.1:n.1420+18C>T
NM_001017416.2:c.1420+18C>T	NP_001017416.1:n.1420+18C>T