Canonical Allele Identifier: CA7744879
Gene: VPS33B HGNC NCBI

Linked Data

ClinVar Variation Id: 317425
dbSNP Id: rs750350100

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91006044G>A , CM000677.2:g.91006044G>A GRCh38
NC_000015.9:g.91549274G>A , CM000677.1:g.91549274G>A GRCh37
NC_000015.8:g.89350278G>A NCBI36
NG_012162.1:g.21560C>T , LRG_884:g.21560C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.868C>T MANE Select ENSP00000327650.4:p.Arg290Trp
ENST00000643536.1:c.868C>T ENSP00000494429.1:p.Arg290Trp
ENST00000647331.1:c.868C>T ENSP00000493953.1:p.Arg290Trp
ENST00000333371.7:c.868C>T ENSP00000327650.3:p.Arg290Trp
ENST00000535906.1:c.787C>T ENSP00000444053.1:p.Arg263Trp
ENST00000556096.6:n.1688C>T
ENST00000574755.5:c.*563C>T ENSP00000460413.1:n.*563C>T
NM_001289148.1:c.787C>T NP_001276077.1:p.Arg263Trp
NM_001289149.1:c.595C>T NP_001276078.1:p.Arg199Trp
NM_018668.4:c.868C>T , LRG_884t1:c.868C>T NP_061138.3:p.Arg290Trp
XM_005254884.2:c.790C>T XP_005254941.1:p.Arg264Trp
XM_005254887.1:c.595C>T XP_005254944.1:p.Arg199Trp
XM_005254888.2:c.868C>T XP_005254945.1:p.Arg290Trp
XM_011521448.1:c.595C>T XP_011519750.1:p.Arg199Trp
XM_011521449.1:c.544C>T XP_011519751.1:p.Arg182Trp
XM_011521449.2:c.544C>T XP_011519751.1:p.Arg182Trp
XM_017022075.2:c.523C>T XP_016877564.1:p.Arg175Trp
XM_017022076.1:c.523C>T XP_016877565.1:p.Arg175Trp
XR_001751213.2:n.1204C>T
NM_018668.5:c.868C>T MANE Select NP_061138.3:p.Arg290Trp