Canonical Allele Identifier: CA348821

Gene: VPS33B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91005095C>G , CM000677.2:g.91005095C>G	GRCh38
NC_000015.9:g.91548325C>G , CM000677.1:g.91548325C>G	GRCh37
NC_000015.8:g.89349329C>G	NCBI36
NG_012162.1:g.22509G>C , LRG_884:g.22509G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.1130G>C MANE Select	ENSP00000327650.4:p.Arg377Pro
ENST00000643536.1:c.1130G>C	ENSP00000494429.1:p.Arg377Pro
ENST00000647331.1:c.1130G>C	ENSP00000493953.1:p.Arg377Pro
ENST00000333371.7:c.1130G>C	ENSP00000327650.3:p.Arg377Pro
ENST00000535906.1:c.1049G>C	ENSP00000444053.1:p.Arg350Pro
ENST00000574755.5:c.*825G>C	ENSP00000460413.1:n.*825G>C
NM_001289148.1:c.1049G>C	NP_001276077.1:p.Arg350Pro
NM_001289149.1:c.857G>C	NP_001276078.1:p.Arg286Pro
NM_018668.4:c.1130G>C , LRG_884t1:c.1130G>C	NP_061138.3:p.Arg377Pro
XM_005254884.2:c.1052G>C	XP_005254941.1:p.Arg351Pro
XM_005254887.1:c.857G>C	XP_005254944.1:p.Arg286Pro
XM_011521448.1:c.857G>C	XP_011519750.1:p.Arg286Pro
XM_011521449.1:c.806G>C	XP_011519751.1:p.Arg269Pro
XM_011521449.2:c.806G>C	XP_011519751.1:p.Arg269Pro
XM_017022075.2:c.785G>C	XP_016877564.1:p.Arg262Pro
XM_017022076.1:c.785G>C	XP_016877565.1:p.Arg262Pro
XR_001751213.2:n.1628G>C
NM_018668.5:c.1130G>C MANE Select	NP_061138.3:p.Arg377Pro