Canonical Allele Identifier: CA7745138

Gene: VPS33B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91014396G>A , CM000677.2:g.91014396G>A	GRCh38
NC_000015.9:g.91557626G>A , CM000677.1:g.91557626G>A	GRCh37
NC_000015.8:g.89358630G>A	NCBI36
NG_012162.1:g.13208C>T , LRG_884:g.13208C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018668.5:c.277C>T MANE Select	NP_061138.3:p.Arg93Ter
ENST00000333371.8:c.277C>T MANE Select	ENSP00000327650.4:p.Arg93Ter
NM_001289148.1:c.196C>T	NP_001276077.1:p.Arg66Ter
NM_001289149.1:c.4C>T	NP_001276078.1:p.Arg2Ter
NM_018668.4:c.277C>T , LRG_884t1:c.277C>T	NP_061138.3:p.Arg93Ter
ENST00000333371.7:c.277C>T	ENSP00000327650.3:p.Arg93Ter
ENST00000535906.1:c.196C>T	ENSP00000444053.1:p.Arg66Ter
ENST00000554264.5:n.200C>T
ENST00000556096.6:n.671C>T
ENST00000557358.1:n.481C>T
ENST00000574755.5:c.215C>T	ENSP00000460413.1:p.Ala72Val
ENST00000643536.1:c.277C>T	ENSP00000494429.1:p.Arg93Ter
ENST00000647331.1:c.277C>T	ENSP00000493953.1:p.Arg93Ter
XM_005254884.2:c.277C>T	XP_005254941.1:p.Arg93Ter
XM_005254887.1:c.4C>T	XP_005254944.1:p.Arg2Ter
XM_005254888.2:c.277C>T	XP_005254945.1:p.Arg93Ter
XM_011521448.1:c.4C>T	XP_011519750.1:p.Arg2Ter
XM_017022075.2:c.-85C>T	XP_016877564.1:n.-85C>T
XM_017022076.1:c.-85C>T	XP_016877565.1:n.-85C>T
XR_001751213.2:n.613C>T