Canonical Allele Identifier: CA622694258

Gene: USB1

Linked Data

• dbSNP Id: rs1394635522
• gnomAD v2: 16-58052855-G-C
• gnomAD v4: 16-58018951-G-C
• MyVariant Identifiers: chr16:g.58052855G>C (hg19) ; chr16:g.58018951G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58018951G>C , CM000678.2:g.58018951G>C	GRCh38
NC_000016.9:g.58052855G>C , CM000678.1:g.58052855G>C	GRCh37
NC_000016.8:g.56610356G>C	NCBI36
NG_027698.1:g.22579G>C , LRG_352:g.22579G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561568.6:c.571-21G>C	ENSP00000457322.2:n.571-21G>C
ENST00000565662.6:c.*89-21G>C	ENSP00000513729.1:n.*89-21G>C
ENST00000698444.1:c.457-21G>C	ENSP00000513726.1:n.457-21G>C
ENST00000698445.1:c.504-21G>C	ENSP00000513727.1:n.504-21G>C
ENST00000698446.1:c.*301-21G>C	ENSP00000513728.1:n.*301-21G>C
ENST00000698447.1:c.*267-21G>C	ENSP00000513732.1:n.*267-21G>C
ENST00000219281.8:c.610-21G>C MANE Select	ENSP00000219281.3:n.610-21G>C
ENST00000219281.7:c.610-21G>C	ENSP00000219281.3:n.610-21G>C
ENST00000539737.6:c.556-21G>C	ENSP00000446143.2:n.556-21G>C
ENST00000561743.5:c.457-21G>C	ENSP00000454928.1:n.457-21G>C
ENST00000565151.1:n.805-21G>C
ENST00000565662.5:n.655-21G>C
ENST00000566082.1:n.2328-21G>C
NM_001195302.1:c.556-21G>C	NP_001182231.1:n.556-21G>C
NM_024598.3:c.610-21G>C , LRG_352t1:c.610-21G>C	NP_078874.2:n.610-21G>C
XM_005256144.3:c.457-21G>C	XP_005256201.1:n.457-21G>C
XM_011523328.1:c.571-21G>C	XP_011521630.1:n.571-21G>C
XM_011523329.1:c.457-21G>C	XP_011521631.1:n.457-21G>C
NM_001330568.1:c.457-21G>C	NP_001317497.1:n.457-21G>C
NM_001195302.2:c.556-21G>C	NP_001182231.1:n.556-21G>C
NM_001330568.2:c.457-21G>C	NP_001317497.1:n.457-21G>C
NM_024598.4:c.610-21G>C MANE Select	NP_078874.2:n.610-21G>C