Canonical Allele Identifier: CA393886453
Gene: VPS33B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91002073T>C , CM000677.2:g.91002073T>C GRCh38
NC_000015.9:g.91545303T>C , CM000677.1:g.91545303T>C GRCh37
NC_000015.8:g.89346307T>C NCBI36
NG_012162.1:g.25531A>G , LRG_884:g.25531A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.1382A>G MANE Select ENSP00000327650.4:p.Lys461Arg
ENST00000643536.1:c.1382A>G ENSP00000494429.1:p.Lys461Arg
ENST00000647331.1:c.1382A>G ENSP00000493953.1:p.Lys461Arg
ENST00000333371.7:c.1382A>G ENSP00000327650.3:p.Lys461Arg
ENST00000535906.1:c.1301A>G ENSP00000444053.1:p.Lys434Arg
ENST00000574755.5:c.*1077A>G ENSP00000460413.1:n.*1077A>G
NM_001289148.1:c.1301A>G NP_001276077.1:p.Lys434Arg
NM_001289149.1:c.1109A>G NP_001276078.1:p.Lys370Arg
NM_018668.4:c.1382A>G , LRG_884t1:c.1382A>G NP_061138.3:p.Lys461Arg
XM_005254884.2:c.1304A>G XP_005254941.1:p.Lys435Arg
XM_005254887.1:c.1109A>G XP_005254944.1:p.Lys370Arg
XM_011521448.1:c.1109A>G XP_011519750.1:p.Lys370Arg
XM_011521449.1:c.1058A>G XP_011519751.1:p.Lys353Arg
XM_011521449.2:c.1058A>G XP_011519751.1:p.Lys353Arg
XM_017022075.2:c.1037A>G XP_016877564.1:p.Lys346Arg
XM_017022076.1:c.1037A>G XP_016877565.1:p.Lys346Arg
XR_001751213.2:n.1880A>G
NM_018668.5:c.1382A>G MANE Select NP_061138.3:p.Lys461Arg