Canonical Allele Identifier: CA7745082

Gene: VPS33B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91009799A>T , CM000677.2:g.91009799A>T	GRCh38
NC_000015.9:g.91553029A>T , CM000677.1:g.91553029A>T	GRCh37
NC_000015.8:g.89354033A>T	NCBI36
NG_012162.1:g.17805T>A , LRG_884:g.17805T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018668.5:c.403+2T>A MANE Select	NP_061138.3:n.403+2T>A
ENST00000333371.8:c.403+2T>A MANE Select	ENSP00000327650.4:n.403+2T>A
NM_001289148.1:c.322+2T>A	NP_001276077.1:n.322+2T>A
NM_001289149.1:c.130+2T>A	NP_001276078.1:n.130+2T>A
NM_018668.4:c.403+2T>A , LRG_884t1:c.403+2T>A	NP_061138.3:n.403+2T>A
ENST00000333371.7:c.403+2T>A	ENSP00000327650.3:n.403+2T>A
ENST00000535906.1:c.322+2T>A	ENSP00000444053.1:n.322+2T>A
ENST00000554264.5:n.326+2T>A
ENST00000556096.6:n.797+2T>A
ENST00000574755.5:c.*98+2T>A	ENSP00000460413.1:n.*98+2T>A
ENST00000643536.1:c.403+2T>A	ENSP00000494429.1:n.403+2T>A
ENST00000647331.1:c.403+2T>A	ENSP00000493953.1:n.403+2T>A
XM_005254884.2:c.403+2T>A	XP_005254941.1:n.403+2T>A
XM_005254887.1:c.130+2T>A	XP_005254944.1:n.130+2T>A
XM_005254888.2:c.403+2T>A	XP_005254945.1:n.403+2T>A
XM_011521448.1:c.130+2T>A	XP_011519750.1:n.130+2T>A
XM_011521449.1:c.-9T>A	XP_011519751.1:n.-9T>A
XM_011521449.2:c.-9T>A	XP_011519751.1:n.-9T>A
XM_017022075.2:c.44T>A	XP_016877564.1:p.Val15Glu
XM_017022076.1:c.44T>A	XP_016877565.1:p.Val15Glu
XR_001751213.2:n.739+2T>A