Canonical Allele Identifier: CA7744602

Gene: VPS33B

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91000531C>G , CM000677.2:g.91000531C>G	GRCh38
NC_000015.9:g.91543761C>G , CM000677.1:g.91543761C>G	GRCh37
NC_000015.8:g.89344765C>G	NCBI36
NG_012162.1:g.27073G>C , LRG_884:g.27073G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.1540G>C MANE Select	ENSP00000327650.4:p.Gly514Arg
ENST00000643536.1:c.1540G>C	ENSP00000494429.1:p.Gly514Arg
ENST00000647331.1:c.1540G>C	ENSP00000493953.1:p.Gly514Arg
ENST00000333371.7:c.1540G>C	ENSP00000327650.3:p.Gly514Arg
ENST00000535906.1:c.1459G>C	ENSP00000444053.1:p.Gly487Arg
ENST00000554660.1:n.475G>C
ENST00000557470.5:n.106G>C
ENST00000574755.5:c.*1235G>C	ENSP00000460413.1:n.*1235G>C
NM_001289148.1:c.1459G>C	NP_001276077.1:p.Gly487Arg
NM_001289149.1:c.1267G>C	NP_001276078.1:p.Gly423Arg
NM_018668.4:c.1540G>C , LRG_884t1:c.1540G>C	NP_061138.3:p.Gly514Arg
XM_005254884.2:c.1462G>C	XP_005254941.1:p.Gly488Arg
XM_005254887.1:c.1267G>C	XP_005254944.1:p.Gly423Arg
XM_011521448.1:c.1267G>C	XP_011519750.1:p.Gly423Arg
XM_011521449.1:c.1216G>C	XP_011519751.1:p.Gly406Arg
XM_011521449.2:c.1216G>C	XP_011519751.1:p.Gly406Arg
XM_017022075.2:c.1195G>C	XP_016877564.1:p.Gly399Arg
XM_017022076.1:c.1195G>C	XP_016877565.1:p.Gly399Arg
XR_001751213.2:n.2038G>C
NM_018668.5:c.1540G>C MANE Select	NP_061138.3:p.Gly514Arg