Canonical Allele Identifier: CA114042

Gene: USB1

Linked Data

• ClinVar Variation Id: 201
• ClinVar RCV Id: RCV000000224
• dbSNP Id: rs137853970
• MyVariant Identifiers: chr16:g.58051236A>C (hg19) ; chr16:g.58017332A>C (hg38)
• PubMed: PMID:20004881 ; PMID:29072891

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58017332A>C , CM000678.2:g.58017332A>C	GRCh38
NC_000016.9:g.58051236A>C , CM000678.1:g.58051236A>C	GRCh37
NC_000016.8:g.56608737A>C	NCBI36
NG_027698.1:g.20960A>C , LRG_352:g.20960A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561568.6:c.465-2A>C	ENSP00000457322.2:n.465-2A>C
ENST00000565662.6:c.472-2A>C	ENSP00000513729.1:n.472-2A>C
ENST00000698444.1:c.351-2A>C	ENSP00000513726.1:n.351-2A>C
ENST00000698445.1:c.504-1640A>C	ENSP00000513727.1:n.504-1640A>C
ENST00000698446.1:c.*195-2A>C	ENSP00000513728.1:n.*195-2A>C
ENST00000698447.1:c.*161-2A>C	ENSP00000513732.1:n.*161-2A>C
ENST00000219281.8:c.504-2A>C MANE Select	ENSP00000219281.3:n.504-2A>C
ENST00000219281.7:c.504-2A>C	ENSP00000219281.3:n.504-2A>C
ENST00000539737.6:c.450-2A>C	ENSP00000446143.2:n.450-2A>C
ENST00000561568.5:c.465-2A>C	ENSP00000457322.1:n.465-2A>C
ENST00000561743.5:c.351-2A>C	ENSP00000454928.1:n.351-2A>C
ENST00000562534.5:n.456-2A>C
ENST00000563207.1:n.380-2A>C
ENST00000564387.5:c.*161-2A>C	ENSP00000457302.1:n.*161-2A>C
ENST00000565151.1:n.699-2A>C
ENST00000565662.5:n.549-2A>C
ENST00000566082.1:n.2220A>C
NM_001195302.1:c.450-2A>C	NP_001182231.1:n.450-2A>C
NM_024598.3:c.504-2A>C , LRG_352t1:c.504-2A>C	NP_078874.2:n.504-2A>C
XM_005256144.3:c.351-2A>C	XP_005256201.1:n.351-2A>C
XM_011523328.1:c.465-2A>C	XP_011521630.1:n.465-2A>C
XM_011523329.1:c.351-2A>C	XP_011521631.1:n.351-2A>C
NM_001330568.1:c.351-2A>C	NP_001317497.1:n.351-2A>C
NM_001195302.2:c.450-2A>C	NP_001182231.1:n.450-2A>C
NM_001330568.2:c.351-2A>C	NP_001317497.1:n.351-2A>C
NM_024598.4:c.504-2A>C MANE Select	NP_078874.2:n.504-2A>C