Canonical Allele Identifier: CA393860736

Gene: VPS33B

Linked Data

• dbSNP Id: rs754341541
• gnomAD v2: 15-91557625-C-A
• gnomAD v4: 15-91014395-C-A
• MyVariant Identifiers: chr15:g.91557625C>A (hg19) ; chr15:g.91014395C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91014395C>A , CM000677.2:g.91014395C>A	GRCh38
NC_000015.9:g.91557625C>A , CM000677.1:g.91557625C>A	GRCh37
NC_000015.8:g.89358629C>A	NCBI36
NG_012162.1:g.13209G>T , LRG_884:g.13209G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.278G>T MANE Select	ENSP00000327650.4:p.Arg93Leu
ENST00000643536.1:c.278G>T	ENSP00000494429.1:p.Arg93Leu
ENST00000647331.1:c.278G>T	ENSP00000493953.1:p.Arg93Leu
ENST00000333371.7:c.278G>T	ENSP00000327650.3:p.Arg93Leu
ENST00000535906.1:c.197G>T	ENSP00000444053.1:p.Arg66Leu
ENST00000554264.5:n.201G>T
ENST00000556096.6:n.672G>T
ENST00000557358.1:n.482G>T
ENST00000574755.5:c.216G>T	ENSP00000460413.1:p.Ala72=
NM_001289148.1:c.197G>T	NP_001276077.1:p.Arg66Leu
NM_001289149.1:c.5G>T	NP_001276078.1:p.Arg2Leu
NM_018668.4:c.278G>T , LRG_884t1:c.278G>T	NP_061138.3:p.Arg93Leu
XM_005254884.2:c.278G>T	XP_005254941.1:p.Arg93Leu
XM_005254887.1:c.5G>T	XP_005254944.1:p.Arg2Leu
XM_005254888.2:c.278G>T	XP_005254945.1:p.Arg93Leu
XM_011521448.1:c.5G>T	XP_011519750.1:p.Arg2Leu
XM_017022075.2:c.-84G>T	XP_016877564.1:n.-84G>T
XM_017022076.1:c.-84G>T	XP_016877565.1:n.-84G>T
XR_001751213.2:n.614G>T
NM_018668.5:c.278G>T MANE Select	NP_061138.3:p.Arg93Leu