Canonical Allele Identifier: CA393884656

Gene: VPS33B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90999725A>G , CM000677.2:g.90999725A>G	GRCh38
NC_000015.9:g.91542955A>G , CM000677.1:g.91542955A>G	GRCh37
NC_000015.8:g.89343959A>G	NCBI36
NG_012162.1:g.27879T>C , LRG_884:g.27879T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018668.5:c.1726T>C MANE Select	NP_061138.3:p.Cys576Arg
ENST00000333371.8:c.1726T>C MANE Select	ENSP00000327650.4:p.Cys576Arg
NM_001289148.1:c.1645T>C	NP_001276077.1:p.Cys549Arg
NM_001289149.1:c.1453T>C	NP_001276078.1:p.Cys485Arg
NM_018668.4:c.1726T>C , LRG_884t1:c.1726T>C	NP_061138.3:p.Cys576Arg
ENST00000333371.7:c.1726T>C	ENSP00000327650.3:p.Cys576Arg
ENST00000535906.1:c.1645T>C	ENSP00000444053.1:p.Cys549Arg
ENST00000554660.1:n.661T>C
ENST00000557470.5:n.148-671T>C
ENST00000574755.5:c.*1421T>C	ENSP00000460413.1:n.*1421T>C
ENST00000643536.1:c.1726T>C	ENSP00000494429.1:p.Cys576Arg
ENST00000647331.1:c.1726T>C	ENSP00000493953.1:p.Cys576Arg
XM_005254884.2:c.1648T>C	XP_005254941.1:p.Cys550Arg
XM_005254887.1:c.1453T>C	XP_005254944.1:p.Cys485Arg
XM_011521448.1:c.1453T>C	XP_011519750.1:p.Cys485Arg
XM_011521449.1:c.1402T>C	XP_011519751.1:p.Cys468Arg
XM_011521449.2:c.1402T>C	XP_011519751.1:p.Cys468Arg
XM_017022075.2:c.1381T>C	XP_016877564.1:p.Cys461Arg
XM_017022076.1:c.1381T>C	XP_016877565.1:p.Cys461Arg
XR_001751213.2:n.2224T>C