Canonical Allele Identifier: CA7745247

Gene: VPS33B

Linked Data

• dbSNP Id: rs374280651
• ExAC: 15:91565492 C / T
• gnomAD v2: 15-91565492-C-T
• gnomAD v4: 15-91022262-C-T
• MyVariant Identifiers: chr15:g.91565492C>T (hg19) ; chr15:g.91022262C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91022262C>T , CM000677.2:g.91022262C>T	GRCh38
NC_000015.9:g.91565492C>T , CM000677.1:g.91565492C>T	GRCh37
NC_000015.8:g.89366496C>T	NCBI36
NG_012162.1:g.5342G>A , LRG_884:g.5342G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.-13G>A MANE Select	ENSP00000327650.4:n.-13G>A
ENST00000643536.1:c.-13G>A	ENSP00000494429.1:n.-13G>A
ENST00000647331.1:c.-13G>A	ENSP00000493953.1:n.-13G>A
ENST00000333371.7:c.-13G>A	ENSP00000327650.3:n.-13G>A
ENST00000535906.1:c.-13G>A	ENSP00000444053.1:n.-13G>A
ENST00000556096.6:n.342G>A
ENST00000557358.1:n.335G>A
ENST00000574755.5:c.-13G>A	ENSP00000460413.1:n.-13G>A
NM_001289148.1:c.-13G>A	NP_001276077.1:n.-13G>A
NM_001289149.1:c.-224G>A	NP_001276078.1:n.-224G>A
NM_018668.4:c.-13G>A , LRG_884t1:c.-13G>A	NP_061138.3:n.-13G>A
XM_005254884.2:c.-13G>A	XP_005254941.1:n.-13G>A
XM_005254887.1:c.-143G>A	XP_005254944.1:n.-143G>A
XM_005254888.2:c.-13G>A	XP_005254945.1:n.-13G>A
XM_011521448.1:c.-326G>A	XP_011519750.1:n.-326G>A
XM_017022075.2:c.-374G>A	XP_016877564.1:n.-374G>A
XM_017022076.1:c.-231G>A	XP_016877565.1:n.-231G>A
XR_001751213.2:n.324G>A
NM_018668.5:c.-13G>A MANE Select	NP_061138.3:n.-13G>A