Canonical Allele Identifier: CA115404

Gene: VPS33B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91002143G>A , CM000677.2:g.91002143G>A	GRCh38
NC_000015.9:g.91545373G>A , CM000677.1:g.91545373G>A	GRCh37
NC_000015.8:g.89346377G>A	NCBI36
NG_012162.1:g.25461C>T , LRG_884:g.25461C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018668.5:c.1312C>T MANE Select	NP_061138.3:p.Arg438Ter
ENST00000333371.8:c.1312C>T MANE Select	ENSP00000327650.4:p.Arg438Ter
NM_001289148.1:c.1231C>T	NP_001276077.1:p.Arg411Ter
NM_001289149.1:c.1039C>T	NP_001276078.1:p.Arg347Ter
NM_018668.4:c.1312C>T , LRG_884t1:c.1312C>T	NP_061138.3:p.Arg438Ter
ENST00000333371.7:c.1312C>T	ENSP00000327650.3:p.Arg438Ter
ENST00000535906.1:c.1231C>T	ENSP00000444053.1:p.Arg411Ter
ENST00000574755.5:c.*1007C>T	ENSP00000460413.1:n.*1007C>T
ENST00000643536.1:c.1312C>T	ENSP00000494429.1:p.Arg438Ter
ENST00000647331.1:c.1312C>T	ENSP00000493953.1:p.Arg438Ter
XM_005254884.2:c.1234C>T	XP_005254941.1:p.Arg412Ter
XM_005254887.1:c.1039C>T	XP_005254944.1:p.Arg347Ter
XM_011521448.1:c.1039C>T	XP_011519750.1:p.Arg347Ter
XM_011521449.1:c.988C>T	XP_011519751.1:p.Arg330Ter
XM_011521449.2:c.988C>T	XP_011519751.1:p.Arg330Ter
XM_017022075.2:c.967C>T	XP_016877564.1:p.Arg323Ter
XM_017022076.1:c.967C>T	XP_016877565.1:p.Arg323Ter
XR_001751213.2:n.1810C>T