Canonical Allele Identifier: CA7744668

Gene: VPS33B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91002071G>A , CM000677.2:g.91002071G>A	GRCh38
NC_000015.9:g.91545301G>A , CM000677.1:g.91545301G>A	GRCh37
NC_000015.8:g.89346305G>A	NCBI36
NG_012162.1:g.25533C>T , LRG_884:g.25533C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018668.5:c.1384C>T MANE Select	NP_061138.3:p.Leu462=
ENST00000333371.8:c.1384C>T MANE Select	ENSP00000327650.4:p.Leu462=
NM_001289148.1:c.1303C>T	NP_001276077.1:p.Leu435=
NM_001289149.1:c.1111C>T	NP_001276078.1:p.Leu371=
NM_018668.4:c.1384C>T , LRG_884t1:c.1384C>T	NP_061138.3:p.Leu462=
ENST00000333371.7:c.1384C>T	ENSP00000327650.3:p.Leu462=
ENST00000535906.1:c.1303C>T	ENSP00000444053.1:p.Leu435=
ENST00000574755.5:c.*1079C>T	ENSP00000460413.1:n.*1079C>T
ENST00000643536.1:c.1384C>T	ENSP00000494429.1:p.Leu462=
ENST00000647331.1:c.1384C>T	ENSP00000493953.1:p.Leu462=
XM_005254884.2:c.1306C>T	XP_005254941.1:p.Leu436=
XM_005254887.1:c.1111C>T	XP_005254944.1:p.Leu371=
XM_011521448.1:c.1111C>T	XP_011519750.1:p.Leu371=
XM_011521449.1:c.1060C>T	XP_011519751.1:p.Leu354=
XM_011521449.2:c.1060C>T	XP_011519751.1:p.Leu354=
XM_017022075.2:c.1039C>T	XP_016877564.1:p.Leu347=
XM_017022076.1:c.1039C>T	XP_016877565.1:p.Leu347=
XR_001751213.2:n.1882C>T