Canonical Allele Identifier: CA396128946

Gene: USB1

Linked Data

• ClinVar Variation Id: 496755
• ClinVar RCV Id: RCV000599513
• dbSNP Id: rs771096742
• MyVariant Identifiers: chr16:g.58043834T>A (hg19) ; chr16:g.58009930T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58009930T>A , CM000678.2:g.58009930T>A	GRCh38
NC_000016.9:g.58043834T>A , CM000678.1:g.58043834T>A	GRCh37
NC_000016.8:g.56601335T>A	NCBI36
NG_027698.1:g.13558T>A , LRG_352:g.13558T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423271.8:c.267T>A	ENSP00000409792.3:p.Tyr89Ter
ENST00000561568.6:c.228T>A	ENSP00000457322.2:p.Tyr76Ter
ENST00000563149.2:c.267T>A	ENSP00000454692.1:p.Tyr89Ter
ENST00000565662.6:c.267T>A	ENSP00000513729.1:p.Tyr89Ter
ENST00000698444.1:c.114T>A	ENSP00000513726.1:p.Tyr38Ter
ENST00000698445.1:c.267T>A	ENSP00000513727.1:p.Tyr89Ter
ENST00000698446.1:c.*12T>A	ENSP00000513728.1:n.*12T>A
ENST00000698447.1:c.320T>A	ENSP00000513732.1:p.Met107Lys
ENST00000698510.1:c.267T>A	ENSP00000513760.1:p.Tyr89Ter
ENST00000219281.8:c.267T>A MANE Select	ENSP00000219281.3:p.Tyr89Ter
ENST00000219281.7:c.267T>A	ENSP00000219281.3:p.Tyr89Ter
ENST00000423271.7:c.267T>A	ENSP00000409792.3:p.Tyr89Ter
ENST00000539737.6:c.267T>A	ENSP00000446143.2:p.Tyr89Ter
ENST00000561568.5:c.228T>A	ENSP00000457322.1:p.Tyr76Ter
ENST00000561743.5:c.114T>A	ENSP00000454928.1:p.Tyr38Ter
ENST00000562534.5:n.219T>A
ENST00000563149.1:c.267T>A	ENSP00000454692.1:p.Tyr89Ter
ENST00000563207.1:n.326-4343T>A
ENST00000564387.5:c.212T>A	ENSP00000457302.1:p.Met71Lys
ENST00000565662.5:n.344T>A
ENST00000566292.5:n.335T>A
ENST00000568848.5:n.332T>A
ENST00000569252.5:n.353T>A
NM_001195302.1:c.267T>A	NP_001182231.1:p.Tyr89Ter
NM_001204911.1:c.267T>A	NP_001191840.1:p.Tyr89Ter
NM_024598.3:c.267T>A , LRG_352t1:c.267T>A	NP_078874.2:p.Tyr89Ter
XM_005256144.3:c.114T>A	XP_005256201.1:p.Tyr38Ter
XM_011523328.1:c.228T>A	XP_011521630.1:p.Tyr76Ter
XM_011523329.1:c.114T>A	XP_011521631.1:p.Tyr38Ter
XM_011523330.1:c.267T>A	XP_011521632.1:p.Tyr89Ter
XR_933427.1:n.344T>A
XR_933428.1:n.344T>A
NM_001330568.1:c.114T>A	NP_001317497.1:p.Tyr38Ter
NM_001330569.1:c.267T>A	NP_001317498.1:p.Tyr89Ter
NM_001195302.2:c.267T>A	NP_001182231.1:p.Tyr89Ter
NM_001204911.2:c.267T>A	NP_001191840.1:p.Tyr89Ter
NM_001330568.2:c.114T>A	NP_001317497.1:p.Tyr38Ter
NM_001330569.2:c.267T>A	NP_001317498.1:p.Tyr89Ter
NM_024598.4:c.267T>A MANE Select	NP_078874.2:p.Tyr89Ter