Canonical Allele Identifier: CA393886542

Gene: VPS33B

Linked Data

• dbSNP Id: rs1452971983
• gnomAD v4: 15-91002115-G-A
• MyVariant Identifiers: chr15:g.91545345G>A (hg19) ; chr15:g.91002115G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91002115G>A , CM000677.2:g.91002115G>A	GRCh38
NC_000015.9:g.91545345G>A , CM000677.1:g.91545345G>A	GRCh37
NC_000015.8:g.89346349G>A	NCBI36
NG_012162.1:g.25489C>T , LRG_884:g.25489C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.1340C>T MANE Select	ENSP00000327650.4:p.Ala447Val
ENST00000643536.1:c.1340C>T	ENSP00000494429.1:p.Ala447Val
ENST00000647331.1:c.1340C>T	ENSP00000493953.1:p.Ala447Val
ENST00000333371.7:c.1340C>T	ENSP00000327650.3:p.Ala447Val
ENST00000535906.1:c.1259C>T	ENSP00000444053.1:p.Ala420Val
ENST00000574755.5:c.*1035C>T	ENSP00000460413.1:n.*1035C>T
NM_001289148.1:c.1259C>T	NP_001276077.1:p.Ala420Val
NM_001289149.1:c.1067C>T	NP_001276078.1:p.Ala356Val
NM_018668.4:c.1340C>T , LRG_884t1:c.1340C>T	NP_061138.3:p.Ala447Val
XM_005254884.2:c.1262C>T	XP_005254941.1:p.Ala421Val
XM_005254887.1:c.1067C>T	XP_005254944.1:p.Ala356Val
XM_011521448.1:c.1067C>T	XP_011519750.1:p.Ala356Val
XM_011521449.1:c.1016C>T	XP_011519751.1:p.Ala339Val
XM_011521449.2:c.1016C>T	XP_011519751.1:p.Ala339Val
XM_017022075.2:c.995C>T	XP_016877564.1:p.Ala332Val
XM_017022076.1:c.995C>T	XP_016877565.1:p.Ala332Val
XR_001751213.2:n.1838C>T
NM_018668.5:c.1340C>T MANE Select	NP_061138.3:p.Ala447Val