Canonical Allele Identifier: CA393864106

Gene: VPS33B

Linked Data

• dbSNP Id: rs2041126389
• MyVariant Identifiers: chr15:g.91565478A>C (hg19) ; chr15:g.91022248A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91022248A>C , CM000677.2:g.91022248A>C	GRCh38
NC_000015.9:g.91565478A>C , CM000677.1:g.91565478A>C	GRCh37
NC_000015.8:g.89366482A>C	NCBI36
NG_012162.1:g.5356T>G , LRG_884:g.5356T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.2T>G MANE Select	ENSP00000327650.4:p.Met1Arg
ENST00000643536.1:c.2T>G	ENSP00000494429.1:p.Met1Arg
ENST00000647331.1:c.2T>G	ENSP00000493953.1:p.Met1Arg
ENST00000333371.7:c.2T>G	ENSP00000327650.3:p.Met1Arg
ENST00000535906.1:c.2T>G	ENSP00000444053.1:p.Met1Arg
ENST00000556096.6:n.356T>G
ENST00000557358.1:n.349T>G
ENST00000574755.5:c.2T>G	ENSP00000460413.1:p.Met1Arg
NM_001289148.1:c.2T>G	NP_001276077.1:p.Met1Arg
NM_001289149.1:c.-210T>G	NP_001276078.1:n.-210T>G
NM_018668.4:c.2T>G , LRG_884t1:c.2T>G	NP_061138.3:p.Met1Arg
XM_005254884.2:c.2T>G	XP_005254941.1:p.Met1Arg
XM_005254887.1:c.-129T>G	XP_005254944.1:n.-129T>G
XM_005254888.2:c.2T>G	XP_005254945.1:p.Met1Arg
XM_011521448.1:c.-312T>G	XP_011519750.1:n.-312T>G
XM_017022075.2:c.-360T>G	XP_016877564.1:n.-360T>G
XM_017022076.1:c.-217T>G	XP_016877565.1:n.-217T>G
XR_001751213.2:n.338T>G
NM_018668.5:c.2T>G MANE Select	NP_061138.3:p.Met1Arg