Canonical Allele Identifier: CA7744642

Gene: VPS33B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91001414C>T , CM000677.2:g.91001414C>T	GRCh38
NC_000015.9:g.91544644C>T , CM000677.1:g.91544644C>T	GRCh37
NC_000015.8:g.89345648C>T	NCBI36
NG_012162.1:g.26190G>A , LRG_884:g.26190G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018668.5:c.1454G>A MANE Select	NP_061138.3:p.Arg485His
ENST00000333371.8:c.1454G>A MANE Select	ENSP00000327650.4:p.Arg485His
NM_001289148.1:c.1373G>A	NP_001276077.1:p.Arg458His
NM_001289149.1:c.1181G>A	NP_001276078.1:p.Arg394His
NM_018668.4:c.1454G>A , LRG_884t1:c.1454G>A	NP_061138.3:p.Arg485His
ENST00000333371.7:c.1454G>A	ENSP00000327650.3:p.Arg485His
ENST00000535906.1:c.1373G>A	ENSP00000444053.1:p.Arg458His
ENST00000557470.5:n.20G>A
ENST00000574755.5:c.*1149G>A	ENSP00000460413.1:n.*1149G>A
ENST00000643536.1:c.1454G>A	ENSP00000494429.1:p.Arg485His
ENST00000647331.1:c.1454G>A	ENSP00000493953.1:p.Arg485His
XM_005254884.2:c.1376G>A	XP_005254941.1:p.Arg459His
XM_005254887.1:c.1181G>A	XP_005254944.1:p.Arg394His
XM_011521448.1:c.1181G>A	XP_011519750.1:p.Arg394His
XM_011521449.1:c.1130G>A	XP_011519751.1:p.Arg377His
XM_011521449.2:c.1130G>A	XP_011519751.1:p.Arg377His
XM_017022075.2:c.1109G>A	XP_016877564.1:p.Arg370His
XM_017022076.1:c.1109G>A	XP_016877565.1:p.Arg370His
XR_001751213.2:n.1952G>A