Canonical Allele Identifier: CA7744685
Gene: VPS33B HGNC NCBI

Linked Data

dbSNP Id: rs368348750

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91002142C>T , CM000677.2:g.91002142C>T GRCh38
NC_000015.9:g.91545372C>T , CM000677.1:g.91545372C>T GRCh37
NC_000015.8:g.89346376C>T NCBI36
NG_012162.1:g.25462G>A , LRG_884:g.25462G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.1313G>A MANE Select ENSP00000327650.4:p.Arg438Gln
ENST00000643536.1:c.1313G>A ENSP00000494429.1:p.Arg438Gln
ENST00000647331.1:c.1313G>A ENSP00000493953.1:p.Arg438Gln
ENST00000333371.7:c.1313G>A ENSP00000327650.3:p.Arg438Gln
ENST00000535906.1:c.1232G>A ENSP00000444053.1:p.Arg411Gln
ENST00000574755.5:c.*1008G>A ENSP00000460413.1:n.*1008G>A
NM_001289148.1:c.1232G>A NP_001276077.1:p.Arg411Gln
NM_001289149.1:c.1040G>A NP_001276078.1:p.Arg347Gln
NM_018668.4:c.1313G>A , LRG_884t1:c.1313G>A NP_061138.3:p.Arg438Gln
XM_005254884.2:c.1235G>A XP_005254941.1:p.Arg412Gln
XM_005254887.1:c.1040G>A XP_005254944.1:p.Arg347Gln
XM_011521448.1:c.1040G>A XP_011519750.1:p.Arg347Gln
XM_011521449.1:c.989G>A XP_011519751.1:p.Arg330Gln
XM_011521449.2:c.989G>A XP_011519751.1:p.Arg330Gln
XM_017022075.2:c.968G>A XP_016877564.1:p.Arg323Gln
XM_017022076.1:c.968G>A XP_016877565.1:p.Arg323Gln
XR_001751213.2:n.1811G>A
NM_018668.5:c.1313G>A MANE Select NP_061138.3:p.Arg438Gln