Canonical Allele Identifier: CA7744771

Gene: VPS33B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91005060G>A , CM000677.2:g.91005060G>A	GRCh38
NC_000015.9:g.91548290G>A , CM000677.1:g.91548290G>A	GRCh37
NC_000015.8:g.89349294G>A	NCBI36
NG_012162.1:g.22544C>T , LRG_884:g.22544C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.1165C>T MANE Select	ENSP00000327650.4:p.Arg389Trp
ENST00000643536.1:c.1165C>T	ENSP00000494429.1:p.Arg389Trp
ENST00000647331.1:c.1165C>T	ENSP00000493953.1:p.Arg389Trp
ENST00000333371.7:c.1165C>T	ENSP00000327650.3:p.Arg389Trp
ENST00000535906.1:c.1084C>T	ENSP00000444053.1:p.Arg362Trp
ENST00000574755.5:c.*860C>T	ENSP00000460413.1:n.*860C>T
NM_001289148.1:c.1084C>T	NP_001276077.1:p.Arg362Trp
NM_001289149.1:c.892C>T	NP_001276078.1:p.Arg298Trp
NM_018668.4:c.1165C>T , LRG_884t1:c.1165C>T	NP_061138.3:p.Arg389Trp
XM_005254884.2:c.1087C>T	XP_005254941.1:p.Arg363Trp
XM_005254887.1:c.892C>T	XP_005254944.1:p.Arg298Trp
XM_011521448.1:c.892C>T	XP_011519750.1:p.Arg298Trp
XM_011521449.1:c.841C>T	XP_011519751.1:p.Arg281Trp
XM_011521449.2:c.841C>T	XP_011519751.1:p.Arg281Trp
XM_017022075.2:c.820C>T	XP_016877564.1:p.Arg274Trp
XM_017022076.1:c.820C>T	XP_016877565.1:p.Arg274Trp
XR_001751213.2:n.1663C>T
NM_018668.5:c.1165C>T MANE Select	NP_061138.3:p.Arg389Trp