Canonical Allele Identifier: CA396129878

Gene: USB1

Linked Data

• ClinVar Variation Id: 496759
• ClinVar RCV Id: RCV000598972 ; RCV003321693
• dbSNP Id: rs1555498563
• gnomAD v4: 16-58017348-T-G
• MyVariant Identifiers: chr16:g.58051252T>G (hg19) ; chr16:g.58017348T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58017348T>G , CM000678.2:g.58017348T>G	GRCh38
NC_000016.9:g.58051252T>G , CM000678.1:g.58051252T>G	GRCh37
NC_000016.8:g.56608753T>G	NCBI36
NG_027698.1:g.20976T>G , LRG_352:g.20976T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561568.6:c.479T>G	ENSP00000457322.2:p.Leu160Arg
ENST00000565662.6:c.486T>G	ENSP00000513729.1:p.Ala162=
ENST00000698444.1:c.365T>G	ENSP00000513726.1:p.Leu122Arg
ENST00000698445.1:c.504-1624T>G	ENSP00000513727.1:n.504-1624T>G
ENST00000698446.1:c.*209T>G	ENSP00000513728.1:n.*209T>G
ENST00000698447.1:c.*175T>G	ENSP00000513732.1:n.*175T>G
ENST00000219281.8:c.518T>G MANE Select	ENSP00000219281.3:p.Leu173Arg
ENST00000219281.7:c.518T>G	ENSP00000219281.3:p.Leu173Arg
ENST00000539737.6:c.464T>G	ENSP00000446143.2:p.Leu155Arg
ENST00000561568.5:c.479T>G	ENSP00000457322.1:p.Leu160Arg
ENST00000561743.5:c.365T>G	ENSP00000454928.1:p.Leu122Arg
ENST00000562534.5:n.470T>G
ENST00000563207.1:n.394T>G
ENST00000564387.5:c.*175T>G	ENSP00000457302.1:n.*175T>G
ENST00000565151.1:n.713T>G
ENST00000565662.5:n.563T>G
ENST00000566082.1:n.2236T>G
NM_001195302.1:c.464T>G	NP_001182231.1:p.Leu155Arg
NM_024598.3:c.518T>G , LRG_352t1:c.518T>G	NP_078874.2:p.Leu173Arg
XM_005256144.3:c.365T>G	XP_005256201.1:p.Leu122Arg
XM_011523328.1:c.479T>G	XP_011521630.1:p.Leu160Arg
XM_011523329.1:c.365T>G	XP_011521631.1:p.Leu122Arg
NM_001330568.1:c.365T>G	NP_001317497.1:p.Leu122Arg
NM_001195302.2:c.464T>G	NP_001182231.1:p.Leu155Arg
NM_001330568.2:c.365T>G	NP_001317497.1:p.Leu122Arg
NM_024598.4:c.518T>G MANE Select	NP_078874.2:p.Leu173Arg