Canonical Allele Identifier: CA393855383
Community Standard Title: NM_018668.5(VPS33B):c.621G>A (p.Trp207Ter)
Gene: VPS33B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91007029C>T , CM000677.2:g.91007029C>T GRCh38
NC_000015.9:g.91550259C>T , CM000677.1:g.91550259C>T GRCh37
NC_000015.8:g.89351263C>T NCBI36
NG_012162.1:g.20575G>A , LRG_884:g.20575G>A

Transcript Alleles

HGVS Amino-acid Change
NM_018668.5:c.621G>A MANE Select NP_061138.3:p.Trp207Ter
ENST00000333371.8:c.621G>A MANE Select ENSP00000327650.4:p.Trp207Ter
NM_001289148.1:c.540G>A NP_001276077.1:p.Trp180Ter
NM_001289149.1:c.348G>A NP_001276078.1:p.Trp116Ter
NM_018668.4:c.621G>A , LRG_884t1:c.621G>A NP_061138.3:p.Trp207Ter
ENST00000333371.7:c.621G>A ENSP00000327650.3:p.Trp207Ter
ENST00000535906.1:c.540G>A ENSP00000444053.1:p.Trp180Ter
ENST00000556096.6:n.1015G>A
ENST00000574755.5:c.*316G>A ENSP00000460413.1:n.*316G>A
ENST00000643536.1:c.621G>A ENSP00000494429.1:p.Trp207Ter
ENST00000647331.1:c.621G>A ENSP00000493953.1:p.Trp207Ter
XM_005254884.2:c.621G>A XP_005254941.1:p.Trp207Ter
XM_005254887.1:c.348G>A XP_005254944.1:p.Trp116Ter
XM_005254888.2:c.621G>A XP_005254945.1:p.Trp207Ter
XM_011521448.1:c.348G>A XP_011519750.1:p.Trp116Ter
XM_011521449.1:c.297G>A XP_011519751.1:p.Trp99Ter
XM_011521449.2:c.297G>A XP_011519751.1:p.Trp99Ter
XM_017022075.2:c.276G>A XP_016877564.1:p.Trp92Ter
XM_017022076.1:c.276G>A XP_016877565.1:p.Trp92Ter
XR_001751213.2:n.957G>A