Canonical Allele Identifier: CA274765057

Gene: VPS33B

Linked Data

• ClinVar Variation Id: 3002945
• ClinVar RCV Id: RCV003860536
• dbSNP Id: rs1029244647
• gnomAD v2: 15-91565475-G-A
• gnomAD v4: 15-91022245-G-A
• MyVariant Identifiers: chr15:g.91565475G>A (hg19) ; chr15:g.91022245G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91022245G>A , CM000677.2:g.91022245G>A	GRCh38
NC_000015.9:g.91565475G>A , CM000677.1:g.91565475G>A	GRCh37
NC_000015.8:g.89366479G>A	NCBI36
NG_012162.1:g.5359C>T , LRG_884:g.5359C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.5C>T MANE Select	ENSP00000327650.4:p.Ala2Val
ENST00000643536.1:c.5C>T	ENSP00000494429.1:p.Ala2Val
ENST00000647331.1:c.5C>T	ENSP00000493953.1:p.Ala2Val
ENST00000333371.7:c.5C>T	ENSP00000327650.3:p.Ala2Val
ENST00000535906.1:c.5C>T	ENSP00000444053.1:p.Ala2Val
ENST00000556096.6:n.359C>T
ENST00000557358.1:n.352C>T
ENST00000574755.5:c.5C>T	ENSP00000460413.1:p.Ala2Val
NM_001289148.1:c.5C>T	NP_001276077.1:p.Ala2Val
NM_001289149.1:c.-207C>T	NP_001276078.1:n.-207C>T
NM_018668.4:c.5C>T , LRG_884t1:c.5C>T	NP_061138.3:p.Ala2Val
XM_005254884.2:c.5C>T	XP_005254941.1:p.Ala2Val
XM_005254887.1:c.-126C>T	XP_005254944.1:n.-126C>T
XM_005254888.2:c.5C>T	XP_005254945.1:p.Ala2Val
XM_011521448.1:c.-309C>T	XP_011519750.1:n.-309C>T
XM_017022075.2:c.-357C>T	XP_016877564.1:n.-357C>T
XM_017022076.1:c.-214C>T	XP_016877565.1:n.-214C>T
XR_001751213.2:n.341C>T
NM_018668.5:c.5C>T MANE Select	NP_061138.3:p.Ala2Val