Canonical Allele Identifier: CA393885236

Gene: VPS33B

Linked Data

• dbSNP Id: rs11073964
• gnomAD v4: 15-91000531-C-A
• MyVariant Identifiers: chr15:g.91543761C>A (hg19) ; chr15:g.91000531C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91000531C>A , CM000677.2:g.91000531C>A	GRCh38
NC_000015.9:g.91543761C>A , CM000677.1:g.91543761C>A	GRCh37
NC_000015.8:g.89344765C>A	NCBI36
NG_012162.1:g.27073G>T , LRG_884:g.27073G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000333371.8:c.1540G>T MANE Select	ENSP00000327650.4:p.Gly514Cys
ENST00000643536.1:c.1540G>T	ENSP00000494429.1:p.Gly514Cys
ENST00000647331.1:c.1540G>T	ENSP00000493953.1:p.Gly514Cys
ENST00000333371.7:c.1540G>T	ENSP00000327650.3:p.Gly514Cys
ENST00000535906.1:c.1459G>T	ENSP00000444053.1:p.Gly487Cys
ENST00000554660.1:n.475G>T
ENST00000557470.5:n.106G>T
ENST00000574755.5:c.*1235G>T	ENSP00000460413.1:n.*1235G>T
NM_001289148.1:c.1459G>T	NP_001276077.1:p.Gly487Cys
NM_001289149.1:c.1267G>T	NP_001276078.1:p.Gly423Cys
NM_018668.4:c.1540G>T , LRG_884t1:c.1540G>T	NP_061138.3:p.Gly514Cys
XM_005254884.2:c.1462G>T	XP_005254941.1:p.Gly488Cys
XM_005254887.1:c.1267G>T	XP_005254944.1:p.Gly423Cys
XM_011521448.1:c.1267G>T	XP_011519750.1:p.Gly423Cys
XM_011521449.1:c.1216G>T	XP_011519751.1:p.Gly406Cys
XM_011521449.2:c.1216G>T	XP_011519751.1:p.Gly406Cys
XM_017022075.2:c.1195G>T	XP_016877564.1:p.Gly399Cys
XM_017022076.1:c.1195G>T	XP_016877565.1:p.Gly399Cys
XR_001751213.2:n.2038G>T
NM_018668.5:c.1540G>T MANE Select	NP_061138.3:p.Gly514Cys