Canonical Allele Identifier: CA114044

Gene: USB1

Linked Data

• ClinVar Variation Id: 203
• ClinVar RCV Id: RCV000000226
• dbSNP Id: rs137853971
• MyVariant Identifiers: chr16:g.58048229A>G (hg19) ; chr16:g.58014325A>G (hg38)
• PubMed: PMID:20004881 ; PMID:29072891

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58014325A>G , CM000678.2:g.58014325A>G	GRCh38
NC_000016.9:g.58048229A>G , CM000678.1:g.58048229A>G	GRCh37
NC_000016.8:g.56605730A>G	NCBI36
NG_027698.1:g.17953A>G , LRG_352:g.17953A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561568.6:c.463A>G	ENSP00000457322.2:p.Arg155Gly
ENST00000565662.6:c.471+31A>G	ENSP00000513729.1:n.471+31A>G
ENST00000698444.1:c.349A>G	ENSP00000513726.1:p.Arg117Gly
ENST00000698445.1:c.502A>G	ENSP00000513727.1:p.Arg168Gly
ENST00000698446.1:c.*195-3009A>G	ENSP00000513728.1:n.*195-3009A>G
ENST00000698447.1:c.*159A>G	ENSP00000513732.1:n.*159A>G
ENST00000219281.8:c.502A>G MANE Select	ENSP00000219281.3:p.Arg168Gly
ENST00000219281.7:c.502A>G	ENSP00000219281.3:p.Arg168Gly
ENST00000539737.6:c.450-3009A>G	ENSP00000446143.2:n.450-3009A>G
ENST00000561568.5:c.463A>G	ENSP00000457322.1:p.Arg155Gly
ENST00000561743.5:c.349A>G	ENSP00000454928.1:p.Arg117Gly
ENST00000562534.5:n.454A>G
ENST00000563207.1:n.378A>G
ENST00000564387.5:c.*159A>G	ENSP00000457302.1:n.*159A>G
ENST00000565151.1:n.697A>G
ENST00000565662.5:n.548+31A>G
NM_001195302.1:c.450-3009A>G	NP_001182231.1:n.450-3009A>G
NM_024598.3:c.502A>G , LRG_352t1:c.502A>G	NP_078874.2:p.Arg168Gly
XM_005256144.3:c.349A>G	XP_005256201.1:p.Arg117Gly
XM_011523328.1:c.463A>G	XP_011521630.1:p.Arg155Gly
XM_011523329.1:c.349A>G	XP_011521631.1:p.Arg117Gly
NM_001330568.1:c.349A>G	NP_001317497.1:p.Arg117Gly
NM_001195302.2:c.450-3009A>G	NP_001182231.1:n.450-3009A>G
NM_001330568.2:c.349A>G	NP_001317497.1:p.Arg117Gly
NM_024598.4:c.502A>G MANE Select	NP_078874.2:p.Arg168Gly