Canonical Allele Identifier: CA8084968

Gene: USB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58017342T>C , CM000678.2:g.58017342T>C	GRCh38
NC_000016.9:g.58051246T>C , CM000678.1:g.58051246T>C	GRCh37
NC_000016.8:g.56608747T>C	NCBI36
NG_027698.1:g.20970T>C , LRG_352:g.20970T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024598.4:c.512T>C MANE Select	NP_078874.2:p.Ile171Thr
ENST00000219281.8:c.512T>C MANE Select	ENSP00000219281.3:p.Ile171Thr
NM_001195302.1:c.458T>C	NP_001182231.1:p.Ile153Thr
NM_001195302.2:c.458T>C	NP_001182231.1:p.Ile153Thr
NM_001330568.1:c.359T>C	NP_001317497.1:p.Ile120Thr
NM_001330568.2:c.359T>C	NP_001317497.1:p.Ile120Thr
NM_024598.3:c.512T>C , LRG_352t1:c.512T>C	NP_078874.2:p.Ile171Thr
ENST00000219281.7:c.512T>C	ENSP00000219281.3:p.Ile171Thr
ENST00000539737.6:c.458T>C	ENSP00000446143.2:p.Ile153Thr
ENST00000561568.5:c.473T>C	ENSP00000457322.1:p.Ile158Thr
ENST00000561568.6:c.473T>C	ENSP00000457322.2:p.Ile158Thr
ENST00000561743.5:c.359T>C	ENSP00000454928.1:p.Ile120Thr
ENST00000562534.5:n.464T>C
ENST00000563207.1:n.388T>C
ENST00000564387.5:c.*169T>C	ENSP00000457302.1:n.*169T>C
ENST00000565151.1:n.707T>C
ENST00000565662.5:n.557T>C
ENST00000565662.6:c.480T>C	ENSP00000513729.1:p.Tyr160=
ENST00000566082.1:n.2230T>C
ENST00000698444.1:c.359T>C	ENSP00000513726.1:p.Ile120Thr
ENST00000698445.1:c.504-1630T>C	ENSP00000513727.1:n.504-1630T>C
ENST00000698446.1:c.*203T>C	ENSP00000513728.1:n.*203T>C
ENST00000698447.1:c.*169T>C	ENSP00000513732.1:n.*169T>C
XM_005256144.3:c.359T>C	XP_005256201.1:p.Ile120Thr
XM_011523328.1:c.473T>C	XP_011521630.1:p.Ile158Thr
XM_011523329.1:c.359T>C	XP_011521631.1:p.Ile120Thr