Canonical Allele Identifier: CA340619554

Gene: USP1

Linked Data

• dbSNP Id: rs1314609649
• gnomAD v2: 1-62913024-T-C
• gnomAD v4: 1-62447353-T-C
• MyVariant Identifiers: chr1:g.62913024T>C (hg19) ; chr1:g.62447353T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.62447353T>C , CM000663.2:g.62447353T>C	GRCh38
NC_000001.10:g.62913024T>C , CM000663.1:g.62913024T>C	GRCh37
NC_000001.9:g.62685612T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339950.5:c.1262T>C MANE Select	ENSP00000343526.4:p.Ile421Thr
ENST00000339950.4:c.1262T>C	ENSP00000343526.4:p.Ile421Thr
ENST00000371146.5:c.1262T>C	ENSP00000360188.1:p.Ile421Thr
NM_001017415.1:c.1262T>C	NP_001017415.1:p.Ile421Thr
NM_001017416.1:c.1262T>C	NP_001017416.1:p.Ile421Thr
NM_003368.4:c.1262T>C	NP_003359.3:p.Ile421Thr
NM_003368.5:c.1262T>C MANE Select	NP_003359.3:p.Ile421Thr
NM_001017415.2:c.1262T>C	NP_001017415.1:p.Ile421Thr
NM_001017416.2:c.1262T>C	NP_001017416.1:p.Ile421Thr