Canonical Allele Identifier: CA396129268

Gene: USB1

Linked Data

• ClinVar Variation Id: 496757
• ClinVar RCV Id: RCV000599306 ; RCV003558450
• dbSNP Id: rs1555498129
• gnomAD v4: 16-58010078-C-T
• MyVariant Identifiers: chr16:g.58043982C>T (hg19) ; chr16:g.58010078C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58010078C>T , CM000678.2:g.58010078C>T	GRCh38
NC_000016.9:g.58043982C>T , CM000678.1:g.58043982C>T	GRCh37
NC_000016.8:g.56601483C>T	NCBI36
NG_027698.1:g.13706C>T , LRG_352:g.13706C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423271.8:c.415C>T	ENSP00000409792.3:p.Gln139Ter
ENST00000561568.6:c.376C>T	ENSP00000457322.2:p.Gln126Ter
ENST00000563149.2:c.415C>T	ENSP00000454692.1:p.Gln139Ter
ENST00000565662.6:c.415C>T	ENSP00000513729.1:p.Gln139Ter
ENST00000698444.1:c.262C>T	ENSP00000513726.1:p.Gln88Ter
ENST00000698445.1:c.415C>T	ENSP00000513727.1:p.Gln139Ter
ENST00000698446.1:c.*160C>T	ENSP00000513728.1:n.*160C>T
ENST00000698447.1:c.*72C>T	ENSP00000513732.1:n.*72C>T
ENST00000698510.1:c.415C>T	ENSP00000513760.1:p.Gln139Ter
ENST00000219281.8:c.415C>T MANE Select	ENSP00000219281.3:p.Gln139Ter
ENST00000219281.7:c.415C>T	ENSP00000219281.3:p.Gln139Ter
ENST00000423271.7:c.415C>T	ENSP00000409792.3:p.Gln139Ter
ENST00000539737.6:c.415C>T	ENSP00000446143.2:p.Gln139Ter
ENST00000561568.5:c.376C>T	ENSP00000457322.1:p.Gln126Ter
ENST00000561743.5:c.262C>T	ENSP00000454928.1:p.Gln88Ter
ENST00000562534.5:n.367C>T
ENST00000563149.1:c.415C>T	ENSP00000454692.1:p.Gln139Ter
ENST00000563207.1:n.326-4195C>T
ENST00000564387.5:c.*72C>T	ENSP00000457302.1:n.*72C>T
ENST00000565662.5:n.492C>T
ENST00000566292.5:n.483C>T
ENST00000568848.5:n.480C>T
ENST00000569252.5:n.501C>T
NM_001195302.1:c.415C>T	NP_001182231.1:p.Gln139Ter
NM_001204911.1:c.415C>T	NP_001191840.1:p.Gln139Ter
NM_024598.3:c.415C>T , LRG_352t1:c.415C>T	NP_078874.2:p.Gln139Ter
XM_005256144.3:c.262C>T	XP_005256201.1:p.Gln88Ter
XM_011523328.1:c.376C>T	XP_011521630.1:p.Gln126Ter
XM_011523329.1:c.262C>T	XP_011521631.1:p.Gln88Ter
XM_011523330.1:c.415C>T	XP_011521632.1:p.Gln139Ter
XR_933427.1:n.492C>T
XR_933428.1:n.492C>T
NM_001330568.1:c.262C>T	NP_001317497.1:p.Gln88Ter
NM_001330569.1:c.415C>T	NP_001317498.1:p.Gln139Ter
NM_001195302.2:c.415C>T	NP_001182231.1:p.Gln139Ter
NM_001204911.2:c.415C>T	NP_001191840.1:p.Gln139Ter
NM_001330568.2:c.262C>T	NP_001317497.1:p.Gln88Ter
NM_001330569.2:c.415C>T	NP_001317498.1:p.Gln139Ter
NM_024598.4:c.415C>T MANE Select	NP_078874.2:p.Gln139Ter