Canonical Allele Identifier: CA7745083

Gene: VPS33B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91009801C>T , CM000677.2:g.91009801C>T	GRCh38
NC_000015.9:g.91553031C>T , CM000677.1:g.91553031C>T	GRCh37
NC_000015.8:g.89354035C>T	NCBI36
NG_012162.1:g.17803G>A , LRG_884:g.17803G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018668.5:c.403G>A MANE Select	NP_061138.3:p.Asp135Asn
ENST00000333371.8:c.403G>A MANE Select	ENSP00000327650.4:p.Asp135Asn
NM_001289148.1:c.322G>A	NP_001276077.1:p.Asp108Asn
NM_001289149.1:c.130G>A	NP_001276078.1:p.Asp44Asn
NM_018668.4:c.403G>A , LRG_884t1:c.403G>A	NP_061138.3:p.Asp135Asn
ENST00000333371.7:c.403G>A	ENSP00000327650.3:p.Asp135Asn
ENST00000535906.1:c.322G>A	ENSP00000444053.1:p.Asp108Asn
ENST00000554264.5:n.326G>A
ENST00000556096.6:n.797G>A
ENST00000574755.5:c.*98G>A	ENSP00000460413.1:n.*98G>A
ENST00000643536.1:c.403G>A	ENSP00000494429.1:p.Asp135Asn
ENST00000647331.1:c.403G>A	ENSP00000493953.1:p.Asp135Asn
XM_005254884.2:c.403G>A	XP_005254941.1:p.Asp135Asn
XM_005254887.1:c.130G>A	XP_005254944.1:p.Asp44Asn
XM_005254888.2:c.403G>A	XP_005254945.1:p.Asp135Asn
XM_011521448.1:c.130G>A	XP_011519750.1:p.Asp44Asn
XM_011521449.1:c.-11G>A	XP_011519751.1:n.-11G>A
XM_011521449.2:c.-11G>A	XP_011519751.1:n.-11G>A
XM_017022075.2:c.42G>A	XP_016877564.1:p.Glu14=
XM_017022076.1:c.42G>A	XP_016877565.1:p.Glu14=
XR_001751213.2:n.739G>A