Canonical Allele Identifier: CA7744842

Gene: VPS33B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91005780C>T , CM000677.2:g.91005780C>T	GRCh38
NC_000015.9:g.91549010C>T , CM000677.1:g.91549010C>T	GRCh37
NC_000015.8:g.89350014C>T	NCBI36
NG_012162.1:g.21824G>A , LRG_884:g.21824G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018668.5:c.944G>A MANE Select	NP_061138.3:p.Arg315Gln
ENST00000333371.8:c.944G>A MANE Select	ENSP00000327650.4:p.Arg315Gln
NM_001289148.1:c.863G>A	NP_001276077.1:p.Arg288Gln
NM_001289149.1:c.671G>A	NP_001276078.1:p.Arg224Gln
NM_018668.4:c.944G>A , LRG_884t1:c.944G>A	NP_061138.3:p.Arg315Gln
ENST00000333371.7:c.944G>A	ENSP00000327650.3:p.Arg315Gln
ENST00000535906.1:c.863G>A	ENSP00000444053.1:p.Arg288Gln
ENST00000574755.5:c.*639G>A	ENSP00000460413.1:n.*639G>A
ENST00000643536.1:c.944G>A	ENSP00000494429.1:p.Arg315Gln
ENST00000647331.1:c.944G>A	ENSP00000493953.1:p.Arg315Gln
XM_005254884.2:c.866G>A	XP_005254941.1:p.Arg289Gln
XM_005254887.1:c.671G>A	XP_005254944.1:p.Arg224Gln
XM_005254888.2:c.944G>A	XP_005254945.1:p.Arg315Gln
XM_011521448.1:c.671G>A	XP_011519750.1:p.Arg224Gln
XM_011521449.1:c.620G>A	XP_011519751.1:p.Arg207Gln
XM_011521449.2:c.620G>A	XP_011519751.1:p.Arg207Gln
XM_017022075.2:c.599G>A	XP_016877564.1:p.Arg200Gln
XM_017022076.1:c.599G>A	XP_016877565.1:p.Arg200Gln
XR_001751213.2:n.1280G>A