Canonical Allele Identifier: CA396129923

Gene: USB1

Linked Data

• ClinVar Variation Id: 496746
• ClinVar RCV Id: RCV000599164
• dbSNP Id: rs1555498573
• MyVariant Identifiers: chr16:g.58051275C>T (hg19) ; chr16:g.58017371C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58017371C>T , CM000678.2:g.58017371C>T	GRCh38
NC_000016.9:g.58051275C>T , CM000678.1:g.58051275C>T	GRCh37
NC_000016.8:g.56608776C>T	NCBI36
NG_027698.1:g.20999C>T , LRG_352:g.20999C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561568.6:c.502C>T	ENSP00000457322.2:p.Gln168Ter
ENST00000565662.6:c.*20C>T	ENSP00000513729.1:n.*20C>T
ENST00000698444.1:c.388C>T	ENSP00000513726.1:p.Gln130Ter
ENST00000698445.1:c.504-1601C>T	ENSP00000513727.1:n.504-1601C>T
ENST00000698446.1:c.*232C>T	ENSP00000513728.1:n.*232C>T
ENST00000698447.1:c.*198C>T	ENSP00000513732.1:n.*198C>T
ENST00000219281.8:c.541C>T MANE Select	ENSP00000219281.3:p.Gln181Ter
ENST00000219281.7:c.541C>T	ENSP00000219281.3:p.Gln181Ter
ENST00000539737.6:c.487C>T	ENSP00000446143.2:p.Gln163Ter
ENST00000561568.5:c.502C>T	ENSP00000457322.1:p.Gln168Ter
ENST00000561743.5:c.388C>T	ENSP00000454928.1:p.Gln130Ter
ENST00000562534.5:n.493C>T
ENST00000563207.1:n.417C>T
ENST00000564387.5:c.*198C>T	ENSP00000457302.1:n.*198C>T
ENST00000565151.1:n.736C>T
ENST00000565662.5:n.586C>T
ENST00000566082.1:n.2259C>T
NM_001195302.1:c.487C>T	NP_001182231.1:p.Gln163Ter
NM_024598.3:c.541C>T , LRG_352t1:c.541C>T	NP_078874.2:p.Gln181Ter
XM_005256144.3:c.388C>T	XP_005256201.1:p.Gln130Ter
XM_011523328.1:c.502C>T	XP_011521630.1:p.Gln168Ter
XM_011523329.1:c.388C>T	XP_011521631.1:p.Gln130Ter
NM_001330568.1:c.388C>T	NP_001317497.1:p.Gln130Ter
NM_001195302.2:c.487C>T	NP_001182231.1:p.Gln163Ter
NM_001330568.2:c.388C>T	NP_001317497.1:p.Gln130Ter
NM_024598.4:c.541C>T MANE Select	NP_078874.2:p.Gln181Ter