Canonical Allele Identifier: CA7744770

Gene: VPS33B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91005059C>T , CM000677.2:g.91005059C>T	GRCh38
NC_000015.9:g.91548289C>T , CM000677.1:g.91548289C>T	GRCh37
NC_000015.8:g.89349293C>T	NCBI36
NG_012162.1:g.22545G>A , LRG_884:g.22545G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.1166G>A MANE Select	ENSP00000327650.4:p.Arg389Gln
ENST00000643536.1:c.1166G>A	ENSP00000494429.1:p.Arg389Gln
ENST00000647331.1:c.1166G>A	ENSP00000493953.1:p.Arg389Gln
ENST00000333371.7:c.1166G>A	ENSP00000327650.3:p.Arg389Gln
ENST00000535906.1:c.1085G>A	ENSP00000444053.1:p.Arg362Gln
ENST00000574755.5:c.*861G>A	ENSP00000460413.1:n.*861G>A
NM_001289148.1:c.1085G>A	NP_001276077.1:p.Arg362Gln
NM_001289149.1:c.893G>A	NP_001276078.1:p.Arg298Gln
NM_018668.4:c.1166G>A , LRG_884t1:c.1166G>A	NP_061138.3:p.Arg389Gln
XM_005254884.2:c.1088G>A	XP_005254941.1:p.Arg363Gln
XM_005254887.1:c.893G>A	XP_005254944.1:p.Arg298Gln
XM_011521448.1:c.893G>A	XP_011519750.1:p.Arg298Gln
XM_011521449.1:c.842G>A	XP_011519751.1:p.Arg281Gln
XM_011521449.2:c.842G>A	XP_011519751.1:p.Arg281Gln
XM_017022075.2:c.821G>A	XP_016877564.1:p.Arg274Gln
XM_017022076.1:c.821G>A	XP_016877565.1:p.Arg274Gln
XR_001751213.2:n.1664G>A
NM_018668.5:c.1166G>A MANE Select	NP_061138.3:p.Arg389Gln