Canonical Allele Identifier: CA393886417

Gene: VPS33B

Linked Data

• gnomAD v4: 15-91002056-C-T
• MyVariant Identifiers: chr15:g.91545286C>T (hg19) ; chr15:g.91002056C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91002056C>T , CM000677.2:g.91002056C>T	GRCh38
NC_000015.9:g.91545286C>T , CM000677.1:g.91545286C>T	GRCh37
NC_000015.8:g.89346290C>T	NCBI36
NG_012162.1:g.25548G>A , LRG_884:g.25548G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.1399G>A MANE Select	ENSP00000327650.4:p.Ala467Thr
ENST00000643536.1:c.1399G>A	ENSP00000494429.1:p.Ala467Thr
ENST00000647331.1:c.1399G>A	ENSP00000493953.1:p.Ala467Thr
ENST00000333371.7:c.1399G>A	ENSP00000327650.3:p.Ala467Thr
ENST00000535906.1:c.1318G>A	ENSP00000444053.1:p.Ala440Thr
ENST00000574755.5:c.*1094G>A	ENSP00000460413.1:n.*1094G>A
NM_001289148.1:c.1318G>A	NP_001276077.1:p.Ala440Thr
NM_001289149.1:c.1126G>A	NP_001276078.1:p.Ala376Thr
NM_018668.4:c.1399G>A , LRG_884t1:c.1399G>A	NP_061138.3:p.Ala467Thr
XM_005254884.2:c.1321G>A	XP_005254941.1:p.Ala441Thr
XM_005254887.1:c.1126G>A	XP_005254944.1:p.Ala376Thr
XM_011521448.1:c.1126G>A	XP_011519750.1:p.Ala376Thr
XM_011521449.1:c.1075G>A	XP_011519751.1:p.Ala359Thr
XM_011521449.2:c.1075G>A	XP_011519751.1:p.Ala359Thr
XM_017022075.2:c.1054G>A	XP_016877564.1:p.Ala352Thr
XM_017022076.1:c.1054G>A	XP_016877565.1:p.Ala352Thr
XR_001751213.2:n.1897G>A
NM_018668.5:c.1399G>A MANE Select	NP_061138.3:p.Ala467Thr