Canonical Allele Identifier: CA393884971

Gene: VPS33B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90999955C>T , CM000677.2:g.90999955C>T	GRCh38
NC_000015.9:g.91543185C>T , CM000677.1:g.91543185C>T	GRCh37
NC_000015.8:g.89344189C>T	NCBI36
NG_012162.1:g.27649G>A , LRG_884:g.27649G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018668.5:c.1602G>A MANE Select	NP_061138.3:p.Trp534Ter
ENST00000333371.8:c.1602G>A MANE Select	ENSP00000327650.4:p.Trp534Ter
NM_001289148.1:c.1521G>A	NP_001276077.1:p.Trp507Ter
NM_001289149.1:c.1329G>A	NP_001276078.1:p.Trp443Ter
NM_018668.4:c.1602G>A , LRG_884t1:c.1602G>A	NP_061138.3:p.Trp534Ter
ENST00000333371.7:c.1602G>A	ENSP00000327650.3:p.Trp534Ter
ENST00000535906.1:c.1521G>A	ENSP00000444053.1:p.Trp507Ter
ENST00000554660.1:n.537G>A
ENST00000557470.5:n.147+535G>A
ENST00000574755.5:c.*1297G>A	ENSP00000460413.1:n.*1297G>A
ENST00000643536.1:c.1602G>A	ENSP00000494429.1:p.Trp534Ter
ENST00000647331.1:c.1602G>A	ENSP00000493953.1:p.Trp534Ter
XM_005254884.2:c.1524G>A	XP_005254941.1:p.Trp508Ter
XM_005254887.1:c.1329G>A	XP_005254944.1:p.Trp443Ter
XM_011521448.1:c.1329G>A	XP_011519750.1:p.Trp443Ter
XM_011521449.1:c.1278G>A	XP_011519751.1:p.Trp426Ter
XM_011521449.2:c.1278G>A	XP_011519751.1:p.Trp426Ter
XM_017022075.2:c.1257G>A	XP_016877564.1:p.Trp419Ter
XM_017022076.1:c.1257G>A	XP_016877565.1:p.Trp419Ter
XR_001751213.2:n.2100G>A