Canonical Allele Identifier: CA2630423100

Gene: VPS33B

Linked Data

• gnomAD v4: 15-91000446-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91000446G>C , CM000677.2:g.91000446G>C	GRCh38
NC_000015.9:g.91543676G>C , CM000677.1:g.91543676G>C	GRCh37
NC_000015.8:g.89344680G>C	NCBI36
NG_012162.1:g.27158C>G , LRG_884:g.27158C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000333371.8:c.1581+44C>G MANE Select	ENSP00000327650.4:n.1581+44C>G
ENST00000643536.1:c.1581+44C>G	ENSP00000494429.1:n.1581+44C>G
ENST00000647331.1:c.1581+44C>G	ENSP00000493953.1:n.1581+44C>G
ENST00000333371.7:c.1581+44C>G	ENSP00000327650.3:n.1581+44C>G
ENST00000535906.1:c.1500+44C>G	ENSP00000444053.1:n.1500+44C>G
ENST00000554660.1:n.516+44C>G
ENST00000557470.5:n.147+44C>G
ENST00000574755.5:c.*1276+44C>G	ENSP00000460413.1:n.*1276+44C>G
NM_001289148.1:c.1500+44C>G	NP_001276077.1:n.1500+44C>G
NM_001289149.1:c.1308+44C>G	NP_001276078.1:n.1308+44C>G
NM_018668.4:c.1581+44C>G , LRG_884t1:c.1581+44C>G	NP_061138.3:n.1581+44C>G
XM_005254884.2:c.1503+44C>G	XP_005254941.1:n.1503+44C>G
XM_005254887.1:c.1308+44C>G	XP_005254944.1:n.1308+44C>G
XM_011521448.1:c.1308+44C>G	XP_011519750.1:n.1308+44C>G
XM_011521449.1:c.1257+44C>G	XP_011519751.1:n.1257+44C>G
XM_011521449.2:c.1257+44C>G	XP_011519751.1:n.1257+44C>G
XM_017022075.2:c.1236+44C>G	XP_016877564.1:n.1236+44C>G
XM_017022076.1:c.1236+44C>G	XP_016877565.1:n.1236+44C>G
XR_001751213.2:n.2079+44C>G
NM_018668.5:c.1581+44C>G MANE Select	NP_061138.3:n.1581+44C>G