Canonical Allele Identifier: CA396129170

Gene: USB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58010033T>C , CM000678.2:g.58010033T>C	GRCh38
NC_000016.9:g.58043937T>C , CM000678.1:g.58043937T>C	GRCh37
NC_000016.8:g.56601438T>C	NCBI36
NG_027698.1:g.13661T>C , LRG_352:g.13661T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024598.4:c.370T>C MANE Select	NP_078874.2:p.Ser124Pro
ENST00000219281.8:c.370T>C MANE Select	ENSP00000219281.3:p.Ser124Pro
NM_001195302.1:c.370T>C	NP_001182231.1:p.Ser124Pro
NM_001195302.2:c.370T>C	NP_001182231.1:p.Ser124Pro
NM_001204911.1:c.370T>C	NP_001191840.1:p.Ser124Pro
NM_001204911.2:c.370T>C	NP_001191840.1:p.Ser124Pro
NM_001330568.1:c.217T>C	NP_001317497.1:p.Ser73Pro
NM_001330568.2:c.217T>C	NP_001317497.1:p.Ser73Pro
NM_001330569.1:c.370T>C	NP_001317498.1:p.Ser124Pro
NM_001330569.2:c.370T>C	NP_001317498.1:p.Ser124Pro
NM_024598.3:c.370T>C , LRG_352t1:c.370T>C	NP_078874.2:p.Ser124Pro
ENST00000219281.7:c.370T>C	ENSP00000219281.3:p.Ser124Pro
ENST00000423271.7:c.370T>C	ENSP00000409792.3:p.Ser124Pro
ENST00000423271.8:c.370T>C	ENSP00000409792.3:p.Ser124Pro
ENST00000539737.6:c.370T>C	ENSP00000446143.2:p.Ser124Pro
ENST00000561568.5:c.331T>C	ENSP00000457322.1:p.Ser111Pro
ENST00000561568.6:c.331T>C	ENSP00000457322.2:p.Ser111Pro
ENST00000561743.5:c.217T>C	ENSP00000454928.1:p.Ser73Pro
ENST00000562534.5:n.322T>C
ENST00000563149.1:c.370T>C	ENSP00000454692.1:p.Ser124Pro
ENST00000563149.2:c.370T>C	ENSP00000454692.1:p.Ser124Pro
ENST00000563207.1:n.326-4240T>C
ENST00000564387.5:c.*27T>C	ENSP00000457302.1:n.*27T>C
ENST00000565662.5:n.447T>C
ENST00000565662.6:c.370T>C	ENSP00000513729.1:p.Ser124Pro
ENST00000566292.5:n.438T>C
ENST00000568848.5:n.435T>C
ENST00000569252.5:n.456T>C
ENST00000698444.1:c.217T>C	ENSP00000513726.1:p.Ser73Pro
ENST00000698445.1:c.370T>C	ENSP00000513727.1:p.Ser124Pro
ENST00000698446.1:c.*115T>C	ENSP00000513728.1:n.*115T>C
ENST00000698447.1:c.*27T>C	ENSP00000513732.1:n.*27T>C
ENST00000698510.1:c.370T>C	ENSP00000513760.1:p.Ser124Pro
XM_005256144.3:c.217T>C	XP_005256201.1:p.Ser73Pro
XM_011523328.1:c.331T>C	XP_011521630.1:p.Ser111Pro
XM_011523329.1:c.217T>C	XP_011521631.1:p.Ser73Pro
XM_011523330.1:c.370T>C	XP_011521632.1:p.Ser124Pro
XR_933427.1:n.447T>C
XR_933428.1:n.447T>C