Canonical Allele Identifier: CA10647528

Gene: VPS33B

Linked Data

• ClinVar Variation Id: 317417
• ClinVar RCV Id: RCV000311705
• dbSNP Id: rs886051555
• MyVariant Identifiers: chr15:g.91542050T>C (hg19) ; chr15:g.90998820T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90998820T>C , CM000677.2:g.90998820T>C	GRCh38
NC_000015.9:g.91542050T>C , CM000677.1:g.91542050T>C	GRCh37
NC_000015.8:g.89343054T>C	NCBI36
NG_012162.1:g.28784A>G , LRG_884:g.28784A>G
NG_050647.1:g.832A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000333371.8:c.*155A>G MANE Select	ENSP00000327650.4:n.*155A>G
ENST00000643536.1:c.1774+857A>G	ENSP00000494429.1:n.1774+857A>G
ENST00000647331.1:c.1774+857A>G	ENSP00000493953.1:n.1774+857A>G
ENST00000333371.7:c.*155A>G	ENSP00000327650.3:n.*155A>G
ENST00000535906.1:c.*155A>G	ENSP00000444053.1:n.*155A>G
ENST00000557470.5:n.382A>G
ENST00000574755.5:c.*1704A>G	ENSP00000460413.1:n.*1704A>G
NM_001289148.1:c.*155A>G	NP_001276077.1:n.*155A>G
NM_001289149.1:c.*155A>G	NP_001276078.1:n.*155A>G
NM_018668.4:c.*155A>G , LRG_884t1:c.*155A>G	NP_061138.3:n.*155A>G
XM_005254884.2:c.*155A>G	XP_005254941.1:n.*155A>G
XM_005254887.1:c.*155A>G	XP_005254944.1:n.*155A>G
XM_011521448.1:c.*155A>G	XP_011519750.1:n.*155A>G
XM_011521449.1:c.*155A>G	XP_011519751.1:n.*155A>G
XM_011521449.2:c.*155A>G	XP_011519751.1:n.*155A>G
XM_017022075.2:c.*155A>G	XP_016877564.1:n.*155A>G
XM_017022076.1:c.*155A>G	XP_016877565.1:n.*155A>G
XR_001751213.2:n.2507A>G
NM_018668.5:c.*155A>G MANE Select	NP_061138.3:n.*155A>G