Canonical Allele Identifier: CA8085001
Gene: USB1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.58018958G>A , CM000678.2:g.58018958G>A GRCh38
NC_000016.9:g.58052862G>A , CM000678.1:g.58052862G>A GRCh37
NC_000016.8:g.56610363G>A NCBI36
NG_027698.1:g.22586G>A , LRG_352:g.22586G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561568.6:c.571-14G>A ENSP00000457322.2:n.571-14G>A
ENST00000565662.6:c.*89-14G>A ENSP00000513729.1:n.*89-14G>A
ENST00000698444.1:c.457-14G>A ENSP00000513726.1:n.457-14G>A
ENST00000698445.1:c.504-14G>A ENSP00000513727.1:n.504-14G>A
ENST00000698446.1:c.*301-14G>A ENSP00000513728.1:n.*301-14G>A
ENST00000698447.1:c.*267-14G>A ENSP00000513732.1:n.*267-14G>A
ENST00000219281.8:c.610-14G>A MANE Select ENSP00000219281.3:n.610-14G>A
ENST00000219281.7:c.610-14G>A ENSP00000219281.3:n.610-14G>A
ENST00000539737.6:c.556-14G>A ENSP00000446143.2:n.556-14G>A
ENST00000561743.5:c.457-14G>A ENSP00000454928.1:n.457-14G>A
ENST00000565151.1:n.805-14G>A
ENST00000565662.5:n.655-14G>A
ENST00000566082.1:n.2328-14G>A
NM_001195302.1:c.556-14G>A NP_001182231.1:n.556-14G>A
NM_024598.3:c.610-14G>A , LRG_352t1:c.610-14G>A NP_078874.2:n.610-14G>A
XM_005256144.3:c.457-14G>A XP_005256201.1:n.457-14G>A
XM_011523328.1:c.571-14G>A XP_011521630.1:n.571-14G>A
XM_011523329.1:c.457-14G>A XP_011521631.1:n.457-14G>A
NM_001330568.1:c.457-14G>A NP_001317497.1:n.457-14G>A
NM_001195302.2:c.556-14G>A NP_001182231.1:n.556-14G>A
NM_001330568.2:c.457-14G>A NP_001317497.1:n.457-14G>A
NM_024598.4:c.610-14G>A MANE Select NP_078874.2:n.610-14G>A