Canonical Allele Identifier: CA7744691

Gene: VPS33B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91002181C>T , CM000677.2:g.91002181C>T	GRCh38
NC_000015.9:g.91545411C>T , CM000677.1:g.91545411C>T	GRCh37
NC_000015.8:g.89346415C>T	NCBI36
NG_012162.1:g.25423G>A , LRG_884:g.25423G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.1274G>A MANE Select	ENSP00000327650.4:p.Ser425Asn
ENST00000643536.1:c.1274G>A	ENSP00000494429.1:p.Ser425Asn
ENST00000647331.1:c.1274G>A	ENSP00000493953.1:p.Ser425Asn
ENST00000333371.7:c.1274G>A	ENSP00000327650.3:p.Ser425Asn
ENST00000535906.1:c.1193G>A	ENSP00000444053.1:p.Ser398Asn
ENST00000574755.5:c.*969G>A	ENSP00000460413.1:n.*969G>A
NM_001289148.1:c.1193G>A	NP_001276077.1:p.Ser398Asn
NM_001289149.1:c.1001G>A	NP_001276078.1:p.Ser334Asn
NM_018668.4:c.1274G>A , LRG_884t1:c.1274G>A	NP_061138.3:p.Ser425Asn
XM_005254884.2:c.1196G>A	XP_005254941.1:p.Ser399Asn
XM_005254887.1:c.1001G>A	XP_005254944.1:p.Ser334Asn
XM_011521448.1:c.1001G>A	XP_011519750.1:p.Ser334Asn
XM_011521449.1:c.950G>A	XP_011519751.1:p.Ser317Asn
XM_011521449.2:c.950G>A	XP_011519751.1:p.Ser317Asn
XM_017022075.2:c.929G>A	XP_016877564.1:p.Ser310Asn
XM_017022076.1:c.929G>A	XP_016877565.1:p.Ser310Asn
XR_001751213.2:n.1772G>A
NM_018668.5:c.1274G>A MANE Select	NP_061138.3:p.Ser425Asn