Canonical Allele Identifier: CA23729864

Gene: USP1

Linked Data

• dbSNP Id: rs968207621
• gnomAD v2: 1-62912829-T-G
• gnomAD v3: 1-62447158-T-G
• gnomAD v4: 1-62447158-T-G
• MyVariant Identifiers: chr1:g.62912829T>G (hg19) ; chr1:g.62447158T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.62447158T>G , CM000663.2:g.62447158T>G	GRCh38
NC_000001.10:g.62912829T>G , CM000663.1:g.62912829T>G	GRCh37
NC_000001.9:g.62685417T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000339950.5:c.1250-183T>G MANE Select	ENSP00000343526.4:n.1250-183T>G
ENST00000339950.4:c.1250-183T>G	ENSP00000343526.4:n.1250-183T>G
ENST00000371146.5:c.1250-183T>G	ENSP00000360188.1:n.1250-183T>G
NM_001017415.1:c.1250-183T>G	NP_001017415.1:n.1250-183T>G
NM_001017416.1:c.1250-183T>G	NP_001017416.1:n.1250-183T>G
NM_003368.4:c.1250-183T>G	NP_003359.3:n.1250-183T>G
NM_003368.5:c.1250-183T>G MANE Select	NP_003359.3:n.1250-183T>G
NM_001017415.2:c.1250-183T>G	NP_001017415.1:n.1250-183T>G
NM_001017416.2:c.1250-183T>G	NP_001017416.1:n.1250-183T>G