Canonical Allele Identifier: CA393886489

Gene: VPS33B

Linked Data

• ClinVar Variation Id: 2479408
• ClinVar RCV Id: RCV003204184
• gnomAD v4: 15-91002088-T-C
• MyVariant Identifiers: chr15:g.91545318T>C (hg19) ; chr15:g.91002088T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91002088T>C , CM000677.2:g.91002088T>C	GRCh38
NC_000015.9:g.91545318T>C , CM000677.1:g.91545318T>C	GRCh37
NC_000015.8:g.89346322T>C	NCBI36
NG_012162.1:g.25516A>G , LRG_884:g.25516A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.1367A>G MANE Select	ENSP00000327650.4:p.Glu456Gly
ENST00000643536.1:c.1367A>G	ENSP00000494429.1:p.Glu456Gly
ENST00000647331.1:c.1367A>G	ENSP00000493953.1:p.Glu456Gly
ENST00000333371.7:c.1367A>G	ENSP00000327650.3:p.Glu456Gly
ENST00000535906.1:c.1286A>G	ENSP00000444053.1:p.Glu429Gly
ENST00000574755.5:c.*1062A>G	ENSP00000460413.1:n.*1062A>G
NM_001289148.1:c.1286A>G	NP_001276077.1:p.Glu429Gly
NM_001289149.1:c.1094A>G	NP_001276078.1:p.Glu365Gly
NM_018668.4:c.1367A>G , LRG_884t1:c.1367A>G	NP_061138.3:p.Glu456Gly
XM_005254884.2:c.1289A>G	XP_005254941.1:p.Glu430Gly
XM_005254887.1:c.1094A>G	XP_005254944.1:p.Glu365Gly
XM_011521448.1:c.1094A>G	XP_011519750.1:p.Glu365Gly
XM_011521449.1:c.1043A>G	XP_011519751.1:p.Glu348Gly
XM_011521449.2:c.1043A>G	XP_011519751.1:p.Glu348Gly
XM_017022075.2:c.1022A>G	XP_016877564.1:p.Glu341Gly
XM_017022076.1:c.1022A>G	XP_016877565.1:p.Glu341Gly
XR_001751213.2:n.1865A>G
NM_018668.5:c.1367A>G MANE Select	NP_061138.3:p.Glu456Gly