Canonical Allele Identifier: CA274808566

Gene: VPS33B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90999049T>C , CM000677.2:g.90999049T>C	GRCh38
NC_000015.9:g.91542279T>C , CM000677.1:g.91542279T>C	GRCh37
NC_000015.8:g.89343283T>C	NCBI36
NG_012162.1:g.28555A>G , LRG_884:g.28555A>G
NG_050647.1:g.603A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018668.5:c.1780A>G MANE Select	NP_061138.3:p.Arg594Gly
ENST00000333371.8:c.1780A>G MANE Select	ENSP00000327650.4:p.Arg594Gly
NM_001289148.1:c.1699A>G	NP_001276077.1:p.Arg567Gly
NM_001289149.1:c.1507A>G	NP_001276078.1:p.Arg503Gly
NM_018668.4:c.1780A>G , LRG_884t1:c.1780A>G	NP_061138.3:p.Arg594Gly
ENST00000333371.7:c.1780A>G	ENSP00000327650.3:p.Arg594Gly
ENST00000535906.1:c.1699A>G	ENSP00000444053.1:p.Arg567Gly
ENST00000557470.5:n.153A>G
ENST00000574755.5:c.*1475A>G	ENSP00000460413.1:n.*1475A>G
ENST00000643536.1:c.1774+628A>G	ENSP00000494429.1:n.1774+628A>G
ENST00000647331.1:c.1774+628A>G	ENSP00000493953.1:n.1774+628A>G
XM_005254884.2:c.1702A>G	XP_005254941.1:p.Arg568Gly
XM_005254887.1:c.1507A>G	XP_005254944.1:p.Arg503Gly
XM_011521448.1:c.1507A>G	XP_011519750.1:p.Arg503Gly
XM_011521449.1:c.1456A>G	XP_011519751.1:p.Arg486Gly
XM_011521449.2:c.1456A>G	XP_011519751.1:p.Arg486Gly
XM_017022075.2:c.1435A>G	XP_016877564.1:p.Arg479Gly
XM_017022076.1:c.1435A>G	XP_016877565.1:p.Arg479Gly
XR_001751213.2:n.2278A>G