Canonical Allele Identifier: CA396130121

Gene: USB1

Linked Data

• ClinVar Variation Id: 496747
• ClinVar RCV Id: RCV000599396 ; RCV003326469
• dbSNP Id: rs1249059283
• gnomAD v2: 16-58052889-A-G
• gnomAD v3: 16-58018985-A-G
• gnomAD v4: 16-58018985-A-G
• MyVariant Identifiers: chr16:g.58052889A>G (hg19) ; chr16:g.58018985A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58018985A>G , CM000678.2:g.58018985A>G	GRCh38
NC_000016.9:g.58052889A>G , CM000678.1:g.58052889A>G	GRCh37
NC_000016.8:g.56610390A>G	NCBI36
NG_027698.1:g.22613A>G , LRG_352:g.22613A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561568.6:c.584A>G	ENSP00000457322.2:p.His195Arg
ENST00000565662.6:c.*102A>G	ENSP00000513729.1:n.*102A>G
ENST00000698444.1:c.470A>G	ENSP00000513726.1:p.His157Arg
ENST00000698445.1:c.517A>G	ENSP00000513727.1:p.Thr173Ala
ENST00000698446.1:c.*314A>G	ENSP00000513728.1:n.*314A>G
ENST00000698447.1:c.*280A>G	ENSP00000513732.1:n.*280A>G
ENST00000219281.8:c.623A>G MANE Select	ENSP00000219281.3:p.His208Arg
ENST00000219281.7:c.623A>G	ENSP00000219281.3:p.His208Arg
ENST00000539737.6:c.569A>G	ENSP00000446143.2:p.His190Arg
ENST00000561743.5:c.470A>G	ENSP00000454928.1:p.His157Arg
ENST00000565151.1:n.818A>G
ENST00000565662.5:n.668A>G
ENST00000566082.1:n.2341A>G
NM_001195302.1:c.569A>G	NP_001182231.1:p.His190Arg
NM_024598.3:c.623A>G , LRG_352t1:c.623A>G	NP_078874.2:p.His208Arg
XM_005256144.3:c.470A>G	XP_005256201.1:p.His157Arg
XM_011523328.1:c.584A>G	XP_011521630.1:p.His195Arg
XM_011523329.1:c.470A>G	XP_011521631.1:p.His157Arg
NM_001330568.1:c.470A>G	NP_001317497.1:p.His157Arg
NM_001195302.2:c.569A>G	NP_001182231.1:p.His190Arg
NM_001330568.2:c.470A>G	NP_001317497.1:p.His157Arg
NM_024598.4:c.623A>G MANE Select	NP_078874.2:p.His208Arg