Canonical Allele Identifier: CA492172805

Gene: VPS33B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91007870C>G , CM000677.2:g.91007870C>G	GRCh38
NC_000015.9:g.91551100C>G , CM000677.1:g.91551100C>G	GRCh37
NC_000015.8:g.89352104C>G	NCBI36
NG_012162.1:g.19734G>C , LRG_884:g.19734G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018668.5:c.498G>C MANE Select	NP_061138.3:p.Leu166=
ENST00000333371.8:c.498G>C MANE Select	ENSP00000327650.4:p.Leu166=
NM_001289148.1:c.417G>C	NP_001276077.1:p.Leu139=
NM_001289149.1:c.225G>C	NP_001276078.1:p.Leu75=
NM_018668.4:c.498G>C , LRG_884t1:c.498G>C	NP_061138.3:p.Leu166=
ENST00000333371.7:c.498G>C	ENSP00000327650.3:p.Leu166=
ENST00000535906.1:c.417G>C	ENSP00000444053.1:p.Leu139=
ENST00000556096.6:n.892G>C
ENST00000574755.5:c.*193G>C	ENSP00000460413.1:n.*193G>C
ENST00000643536.1:c.498G>C	ENSP00000494429.1:p.Leu166=
ENST00000647331.1:c.498G>C	ENSP00000493953.1:p.Leu166=
XM_005254884.2:c.498G>C	XP_005254941.1:p.Leu166=
XM_005254887.1:c.225G>C	XP_005254944.1:p.Leu75=
XM_005254888.2:c.498G>C	XP_005254945.1:p.Leu166=
XM_011521448.1:c.225G>C	XP_011519750.1:p.Leu75=
XM_011521449.1:c.174G>C	XP_011519751.1:p.Leu58=
XM_011521449.2:c.174G>C	XP_011519751.1:p.Leu58=
XM_017022075.2:c.153G>C	XP_016877564.1:p.Leu51=
XM_017022076.1:c.153G>C	XP_016877565.1:p.Leu51=
XR_001751213.2:n.834G>C