Canonical Allele Identifier: CA393885263
Gene: VPS33B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91000538G>C , CM000677.2:g.91000538G>C GRCh38
NC_000015.9:g.91543768G>C , CM000677.1:g.91543768G>C GRCh37
NC_000015.8:g.89344772G>C NCBI36
NG_012162.1:g.27066C>G , LRG_884:g.27066C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.1533C>G MANE Select ENSP00000327650.4:p.Tyr511Ter
ENST00000643536.1:c.1533C>G ENSP00000494429.1:p.Tyr511Ter
ENST00000647331.1:c.1533C>G ENSP00000493953.1:p.Tyr511Ter
ENST00000333371.7:c.1533C>G ENSP00000327650.3:p.Tyr511Ter
ENST00000535906.1:c.1452C>G ENSP00000444053.1:p.Tyr484Ter
ENST00000554660.1:n.468C>G
ENST00000557470.5:n.99C>G
ENST00000574755.5:c.*1228C>G ENSP00000460413.1:n.*1228C>G
NM_001289148.1:c.1452C>G NP_001276077.1:p.Tyr484Ter
NM_001289149.1:c.1260C>G NP_001276078.1:p.Tyr420Ter
NM_018668.4:c.1533C>G , LRG_884t1:c.1533C>G NP_061138.3:p.Tyr511Ter
XM_005254884.2:c.1455C>G XP_005254941.1:p.Tyr485Ter
XM_005254887.1:c.1260C>G XP_005254944.1:p.Tyr420Ter
XM_011521448.1:c.1260C>G XP_011519750.1:p.Tyr420Ter
XM_011521449.1:c.1209C>G XP_011519751.1:p.Tyr403Ter
XM_011521449.2:c.1209C>G XP_011519751.1:p.Tyr403Ter
XM_017022075.2:c.1188C>G XP_016877564.1:p.Tyr396Ter
XM_017022076.1:c.1188C>G XP_016877565.1:p.Tyr396Ter
XR_001751213.2:n.2031C>G
NM_018668.5:c.1533C>G MANE Select NP_061138.3:p.Tyr511Ter