Canonical Allele Identifier: CA396130274

Gene: USB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58019056G>T , CM000678.2:g.58019056G>T	GRCh38
NC_000016.9:g.58052960G>T , CM000678.1:g.58052960G>T	GRCh37
NC_000016.8:g.56610461G>T	NCBI36
NG_027698.1:g.22684G>T , LRG_352:g.22684G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024598.4:c.693+1G>T MANE Select	NP_078874.2:n.693+1G>T
ENST00000219281.8:c.693+1G>T MANE Select	ENSP00000219281.3:n.693+1G>T
NM_001195302.1:c.639+1G>T	NP_001182231.1:n.639+1G>T
NM_001195302.2:c.639+1G>T	NP_001182231.1:n.639+1G>T
NM_001330568.1:c.540+1G>T	NP_001317497.1:n.540+1G>T
NM_001330568.2:c.540+1G>T	NP_001317497.1:n.540+1G>T
NM_024598.3:c.693+1G>T , LRG_352t1:c.693+1G>T	NP_078874.2:n.693+1G>T
ENST00000219281.7:c.693+1G>T	ENSP00000219281.3:n.693+1G>T
ENST00000539737.6:c.639+1G>T	ENSP00000446143.2:n.639+1G>T
ENST00000561568.6:c.654+1G>T	ENSP00000457322.2:n.654+1G>T
ENST00000561743.5:c.540+1G>T	ENSP00000454928.1:n.540+1G>T
ENST00000565662.6:c.*172+1G>T	ENSP00000513729.1:n.*172+1G>T
ENST00000566082.1:n.2411+1G>T
ENST00000698444.1:c.540+1G>T	ENSP00000513726.1:n.540+1G>T
ENST00000698445.1:c.587+1G>T	ENSP00000513727.1:n.587+1G>T
ENST00000698446.1:c.*384+1G>T	ENSP00000513728.1:n.*384+1G>T
ENST00000698447.1:c.*350+1G>T	ENSP00000513732.1:n.*350+1G>T
XM_005256144.3:c.540+1G>T	XP_005256201.1:n.540+1G>T
XM_011523328.1:c.654+1G>T	XP_011521630.1:n.654+1G>T
XM_011523329.1:c.540+1G>T	XP_011521631.1:n.540+1G>T