Canonical Allele Identifier: CA7745136

Gene: VPS33B

Linked Data

• dbSNP Id: rs766825262
• ExAC: 15:91557620 T / C
• MyVariant Identifiers: chr15:g.91557620T>C (hg19) ; chr15:g.91014390T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91014390T>C , CM000677.2:g.91014390T>C	GRCh38
NC_000015.9:g.91557620T>C , CM000677.1:g.91557620T>C	GRCh37
NC_000015.8:g.89358624T>C	NCBI36
NG_012162.1:g.13214A>G , LRG_884:g.13214A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.283A>G MANE Select	ENSP00000327650.4:p.Ile95Val
ENST00000643536.1:c.283A>G	ENSP00000494429.1:p.Ile95Val
ENST00000647331.1:c.283A>G	ENSP00000493953.1:p.Ile95Val
ENST00000333371.7:c.283A>G	ENSP00000327650.3:p.Ile95Val
ENST00000535906.1:c.202A>G	ENSP00000444053.1:p.Ile68Val
ENST00000554264.5:n.206A>G
ENST00000556096.6:n.677A>G
ENST00000557358.1:n.487A>G
ENST00000574755.5:c.221A>G	ENSP00000460413.1:p.His74Arg
NM_001289148.1:c.202A>G	NP_001276077.1:p.Ile68Val
NM_001289149.1:c.10A>G	NP_001276078.1:p.Ile4Val
NM_018668.4:c.283A>G , LRG_884t1:c.283A>G	NP_061138.3:p.Ile95Val
XM_005254884.2:c.283A>G	XP_005254941.1:p.Ile95Val
XM_005254887.1:c.10A>G	XP_005254944.1:p.Ile4Val
XM_005254888.2:c.283A>G	XP_005254945.1:p.Ile95Val
XM_011521448.1:c.10A>G	XP_011519750.1:p.Ile4Val
XM_017022075.2:c.-79A>G	XP_016877564.1:n.-79A>G
XM_017022076.1:c.-79A>G	XP_016877565.1:n.-79A>G
XR_001751213.2:n.619A>G
NM_018668.5:c.283A>G MANE Select	NP_061138.3:p.Ile95Val