Canonical Allele Identifier: CA7744604

Gene: VPS33B

Linked Data

• ClinVar Variation Id: 595275
• ClinVar RCV Id: RCV000730781
• dbSNP Id: rs768250541
• ExAC: 15:91543767 C / T
• gnomAD v2: 15-91543767-C-T
• gnomAD v3: 15-91000537-C-T
• gnomAD v4: 15-91000537-C-T
• MyVariant Identifiers: chr15:g.91543767C>T (hg19) ; chr15:g.91000537C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91000537C>T , CM000677.2:g.91000537C>T	GRCh38
NC_000015.9:g.91543767C>T , CM000677.1:g.91543767C>T	GRCh37
NC_000015.8:g.89344771C>T	NCBI36
NG_012162.1:g.27067G>A , LRG_884:g.27067G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.1534G>A MANE Select	ENSP00000327650.4:p.Val512Ile
ENST00000643536.1:c.1534G>A	ENSP00000494429.1:p.Val512Ile
ENST00000647331.1:c.1534G>A	ENSP00000493953.1:p.Val512Ile
ENST00000333371.7:c.1534G>A	ENSP00000327650.3:p.Val512Ile
ENST00000535906.1:c.1453G>A	ENSP00000444053.1:p.Val485Ile
ENST00000554660.1:n.469G>A
ENST00000557470.5:n.100G>A
ENST00000574755.5:c.*1229G>A	ENSP00000460413.1:n.*1229G>A
NM_001289148.1:c.1453G>A	NP_001276077.1:p.Val485Ile
NM_001289149.1:c.1261G>A	NP_001276078.1:p.Val421Ile
NM_018668.4:c.1534G>A , LRG_884t1:c.1534G>A	NP_061138.3:p.Val512Ile
XM_005254884.2:c.1456G>A	XP_005254941.1:p.Val486Ile
XM_005254887.1:c.1261G>A	XP_005254944.1:p.Val421Ile
XM_011521448.1:c.1261G>A	XP_011519750.1:p.Val421Ile
XM_011521449.1:c.1210G>A	XP_011519751.1:p.Val404Ile
XM_011521449.2:c.1210G>A	XP_011519751.1:p.Val404Ile
XM_017022075.2:c.1189G>A	XP_016877564.1:p.Val397Ile
XM_017022076.1:c.1189G>A	XP_016877565.1:p.Val397Ile
XR_001751213.2:n.2032G>A
NM_018668.5:c.1534G>A MANE Select	NP_061138.3:p.Val512Ile