Canonical Allele Identifier: CA396128936

Gene: USB1

Linked Data

• ClinVar Variation Id: 496753
• ClinVar RCV Id: RCV000598920
• dbSNP Id: rs1555497680
• gnomAD v4: 16-58002647-T-G
• MyVariant Identifiers: chr16:g.58036551T>G (hg19) ; chr16:g.58002647T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58002647T>G , CM000678.2:g.58002647T>G	GRCh38
NC_000016.9:g.58036551T>G , CM000678.1:g.58036551T>G	GRCh37
NC_000016.8:g.56594052T>G	NCBI36
NG_027698.1:g.6275T>G , LRG_352:g.6275T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423271.8:c.265+2T>G	ENSP00000409792.3:n.265+2T>G
ENST00000561568.6:c.226+2T>G	ENSP00000457322.2:n.226+2T>G
ENST00000563149.2:c.265+2T>G	ENSP00000454692.1:n.265+2T>G
ENST00000565662.6:c.265+2T>G	ENSP00000513729.1:n.265+2T>G
ENST00000698444.1:c.112+2T>G	ENSP00000513726.1:n.112+2T>G
ENST00000698445.1:c.265+2T>G	ENSP00000513727.1:n.265+2T>G
ENST00000698446.1:c.267T>G	ENSP00000513728.1:p.Cys89Trp
ENST00000698447.1:c.265+2T>G	ENSP00000513732.1:n.265+2T>G
ENST00000698510.1:c.265+2T>G	ENSP00000513760.1:n.265+2T>G
ENST00000219281.8:c.265+2T>G MANE Select	ENSP00000219281.3:n.265+2T>G
ENST00000219281.7:c.265+2T>G	ENSP00000219281.3:n.265+2T>G
ENST00000423271.7:c.265+2T>G	ENSP00000409792.3:n.265+2T>G
ENST00000539737.6:c.265+2T>G	ENSP00000446143.2:n.265+2T>G
ENST00000561568.5:c.226+2T>G	ENSP00000457322.1:n.226+2T>G
ENST00000561743.5:c.112+2T>G	ENSP00000454928.1:n.112+2T>G
ENST00000562534.5:n.217+2T>G
ENST00000563149.1:c.265+2T>G	ENSP00000454692.1:n.265+2T>G
ENST00000563207.1:n.325+2T>G
ENST00000564387.5:c.210+57T>G	ENSP00000457302.1:n.210+57T>G
ENST00000565662.5:n.342+2T>G
ENST00000566292.5:n.333+2T>G
ENST00000568848.5:n.330+2T>G
ENST00000569252.5:n.335T>G
NM_001195302.1:c.265+2T>G	NP_001182231.1:n.265+2T>G
NM_001204911.1:c.265+2T>G	NP_001191840.1:n.265+2T>G
NM_024598.3:c.265+2T>G , LRG_352t1:c.265+2T>G	NP_078874.2:n.265+2T>G
XM_005256144.3:c.112+2T>G	XP_005256201.1:n.112+2T>G
XM_011523328.1:c.226+2T>G	XP_011521630.1:n.226+2T>G
XM_011523329.1:c.112+2T>G	XP_011521631.1:n.112+2T>G
XM_011523330.1:c.265+2T>G	XP_011521632.1:n.265+2T>G
XR_933427.1:n.342+2T>G
XR_933428.1:n.342+2T>G
NM_001330568.1:c.112+2T>G	NP_001317497.1:n.112+2T>G
NM_001330569.1:c.265+2T>G	NP_001317498.1:n.265+2T>G
NM_001195302.2:c.265+2T>G	NP_001182231.1:n.265+2T>G
NM_001204911.2:c.265+2T>G	NP_001191840.1:n.265+2T>G
NM_001330568.2:c.112+2T>G	NP_001317497.1:n.112+2T>G
NM_001330569.2:c.265+2T>G	NP_001317498.1:n.265+2T>G
NM_024598.4:c.265+2T>G MANE Select	NP_078874.2:n.265+2T>G