Canonical Allele Identifier: CA8085004

Gene: USB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58019003G>A , CM000678.2:g.58019003G>A	GRCh38
NC_000016.9:g.58052907G>A , CM000678.1:g.58052907G>A	GRCh37
NC_000016.8:g.56610408G>A	NCBI36
NG_027698.1:g.22631G>A , LRG_352:g.22631G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024598.4:c.641G>A MANE Select	NP_078874.2:p.Cys214Tyr
ENST00000219281.8:c.641G>A MANE Select	ENSP00000219281.3:p.Cys214Tyr
NM_001195302.1:c.587G>A	NP_001182231.1:p.Cys196Tyr
NM_001195302.2:c.587G>A	NP_001182231.1:p.Cys196Tyr
NM_001330568.1:c.488G>A	NP_001317497.1:p.Cys163Tyr
NM_001330568.2:c.488G>A	NP_001317497.1:p.Cys163Tyr
NM_024598.3:c.641G>A , LRG_352t1:c.641G>A	NP_078874.2:p.Cys214Tyr
ENST00000219281.7:c.641G>A	ENSP00000219281.3:p.Cys214Tyr
ENST00000539737.6:c.587G>A	ENSP00000446143.2:p.Cys196Tyr
ENST00000561568.6:c.602G>A	ENSP00000457322.2:p.Cys201Tyr
ENST00000561743.5:c.488G>A	ENSP00000454928.1:p.Cys163Tyr
ENST00000565151.1:n.836G>A
ENST00000565662.5:n.686G>A
ENST00000565662.6:c.*120G>A	ENSP00000513729.1:n.*120G>A
ENST00000566082.1:n.2359G>A
ENST00000698444.1:c.488G>A	ENSP00000513726.1:p.Cys163Tyr
ENST00000698445.1:c.535G>A	ENSP00000513727.1:p.Val179Met
ENST00000698446.1:c.*332G>A	ENSP00000513728.1:n.*332G>A
ENST00000698447.1:c.*298G>A	ENSP00000513732.1:n.*298G>A
XM_005256144.3:c.488G>A	XP_005256201.1:p.Cys163Tyr
XM_011523328.1:c.602G>A	XP_011521630.1:p.Cys201Tyr
XM_011523329.1:c.488G>A	XP_011521631.1:p.Cys163Tyr