Canonical Allele Identifier: CA7744542
Gene: VPS33B HGNC NCBI

Linked Data

ClinVar Variation Id: 261044
dbSNP Id: rs148071246

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90999780T>C , CM000677.2:g.90999780T>C GRCh38
NC_000015.9:g.91543010T>C , CM000677.1:g.91543010T>C GRCh37
NC_000015.8:g.89344014T>C NCBI36
NG_012162.1:g.27824A>G , LRG_884:g.27824A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.1671A>G MANE Select ENSP00000327650.4:p.Glu557=
ENST00000643536.1:c.1671A>G ENSP00000494429.1:p.Glu557=
ENST00000647331.1:c.1671A>G ENSP00000493953.1:p.Glu557=
ENST00000333371.7:c.1671A>G ENSP00000327650.3:p.Glu557=
ENST00000535906.1:c.1590A>G ENSP00000444053.1:p.Glu530=
ENST00000554660.1:n.606A>G
ENST00000557470.5:n.147+710A>G
ENST00000574755.5:c.*1366A>G ENSP00000460413.1:n.*1366A>G
NM_001289148.1:c.1590A>G NP_001276077.1:p.Glu530=
NM_001289149.1:c.1398A>G NP_001276078.1:p.Glu466=
NM_018668.4:c.1671A>G , LRG_884t1:c.1671A>G NP_061138.3:p.Glu557=
XM_005254884.2:c.1593A>G XP_005254941.1:p.Glu531=
XM_005254887.1:c.1398A>G XP_005254944.1:p.Glu466=
XM_011521448.1:c.1398A>G XP_011519750.1:p.Glu466=
XM_011521449.1:c.1347A>G XP_011519751.1:p.Glu449=
XM_011521449.2:c.1347A>G XP_011519751.1:p.Glu449=
XM_017022075.2:c.1326A>G XP_016877564.1:p.Glu442=
XM_017022076.1:c.1326A>G XP_016877565.1:p.Glu442=
XR_001751213.2:n.2169A>G
NM_018668.5:c.1671A>G MANE Select NP_061138.3:p.Glu557=