Canonical Allele Identifier: CA7744682
Gene: VPS33B HGNC NCBI

Linked Data

ClinVar Variation Id: 317420
dbSNP Id: rs147407982

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91002123C>T , CM000677.2:g.91002123C>T GRCh38
NC_000015.9:g.91545353C>T , CM000677.1:g.91545353C>T GRCh37
NC_000015.8:g.89346357C>T NCBI36
NG_012162.1:g.25481G>A , LRG_884:g.25481G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000333371.8:c.1332G>A MANE Select ENSP00000327650.4:p.Thr444=
ENST00000643536.1:c.1332G>A ENSP00000494429.1:p.Thr444=
ENST00000647331.1:c.1332G>A ENSP00000493953.1:p.Thr444=
ENST00000333371.7:c.1332G>A ENSP00000327650.3:p.Thr444=
ENST00000535906.1:c.1251G>A ENSP00000444053.1:p.Thr417=
ENST00000574755.5:c.*1027G>A ENSP00000460413.1:p.=
NM_001289148.1:c.1251G>A NP_001276077.1:p.Thr417=
NM_001289149.1:c.1059G>A NP_001276078.1:p.Thr353=
NM_018668.4:c.1332G>A , LRG_884t1:c.1332G>A NP_061138.3:p.Thr444=
XM_005254884.2:c.1254G>A XP_005254941.1:p.Thr418=
XM_005254887.1:c.1059G>A XP_005254944.1:p.Thr353=
XM_011521448.1:c.1059G>A XP_011519750.1:p.Thr353=
XM_011521449.1:c.1008G>A XP_011519751.1:p.Thr336=
XM_011521449.2:c.1008G>A XP_011519751.1:p.Thr336=
XM_017022075.2:c.987G>A XP_016877564.1:p.Thr329=
XM_017022076.1:c.987G>A XP_016877565.1:p.Thr329=
XR_001751213.2:n.1830G>A
NM_018668.5:c.1332G>A MANE Select NP_061138.3:p.Thr444=