Canonical Allele Identifier: CA7744614

Gene: VPS33B

Linked Data

• ClinVar Variation Id: 437260
• ClinVar RCV Id: RCV002524333
• dbSNP Id: rs751858602
• ExAC: 15:91543803 C / A
• gnomAD v2: 15-91543803-C-A
• gnomAD v4: 15-91000573-C-A
• MyVariant Identifiers: chr15:g.91543803C>A (hg19) ; chr15:g.91000573C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91000573C>A , CM000677.2:g.91000573C>A	GRCh38
NC_000015.9:g.91543803C>A , CM000677.1:g.91543803C>A	GRCh37
NC_000015.8:g.89344807C>A	NCBI36
NG_012162.1:g.27031G>T , LRG_884:g.27031G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000333371.8:c.1498G>T MANE Select	ENSP00000327650.4:p.Glu500Ter
ENST00000643536.1:c.1498G>T	ENSP00000494429.1:p.Glu500Ter
ENST00000647331.1:c.1498G>T	ENSP00000493953.1:p.Glu500Ter
ENST00000333371.7:c.1498G>T	ENSP00000327650.3:p.Glu500Ter
ENST00000535906.1:c.1417G>T	ENSP00000444053.1:p.Glu473Ter
ENST00000554660.1:n.433G>T
ENST00000557470.5:n.64G>T
ENST00000574755.5:c.*1193G>T	ENSP00000460413.1:n.*1193G>T
NM_001289148.1:c.1417G>T	NP_001276077.1:p.Glu473Ter
NM_001289149.1:c.1225G>T	NP_001276078.1:p.Glu409Ter
NM_018668.4:c.1498G>T , LRG_884t1:c.1498G>T	NP_061138.3:p.Glu500Ter
XM_005254884.2:c.1420G>T	XP_005254941.1:p.Glu474Ter
XM_005254887.1:c.1225G>T	XP_005254944.1:p.Glu409Ter
XM_011521448.1:c.1225G>T	XP_011519750.1:p.Glu409Ter
XM_011521449.1:c.1174G>T	XP_011519751.1:p.Glu392Ter
XM_011521449.2:c.1174G>T	XP_011519751.1:p.Glu392Ter
XM_017022075.2:c.1153G>T	XP_016877564.1:p.Glu385Ter
XM_017022076.1:c.1153G>T	XP_016877565.1:p.Glu385Ter
XR_001751213.2:n.1996G>T
NM_018668.5:c.1498G>T MANE Select	NP_061138.3:p.Glu500Ter