Canonical Allele Identifier: CA492204370
Gene: VPS33B HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.91545359G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91002129G>T , CM000677.2:g.91002129G>T GRCh38
NC_000015.9:g.91545359G>T , CM000677.1:g.91545359G>T GRCh37
NC_000015.8:g.89346363G>T NCBI36
NG_012162.1:g.25475C>A , LRG_884:g.25475C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.1326C>A MANE Select ENSP00000327650.4:p.Leu442=
ENST00000643536.1:c.1326C>A ENSP00000494429.1:p.Leu442=
ENST00000647331.1:c.1326C>A ENSP00000493953.1:p.Leu442=
ENST00000333371.7:c.1326C>A ENSP00000327650.3:p.Leu442=
ENST00000535906.1:c.1245C>A ENSP00000444053.1:p.Leu415=
ENST00000574755.5:c.*1021C>A ENSP00000460413.1:n.*1021C>A
NM_001289148.1:c.1245C>A NP_001276077.1:p.Leu415=
NM_001289149.1:c.1053C>A NP_001276078.1:p.Leu351=
NM_018668.4:c.1326C>A , LRG_884t1:c.1326C>A NP_061138.3:p.Leu442=
XM_005254884.2:c.1248C>A XP_005254941.1:p.Leu416=
XM_005254887.1:c.1053C>A XP_005254944.1:p.Leu351=
XM_011521448.1:c.1053C>A XP_011519750.1:p.Leu351=
XM_011521449.1:c.1002C>A XP_011519751.1:p.Leu334=
XM_011521449.2:c.1002C>A XP_011519751.1:p.Leu334=
XM_017022075.2:c.981C>A XP_016877564.1:p.Leu327=
XM_017022076.1:c.981C>A XP_016877565.1:p.Leu327=
XR_001751213.2:n.1824C>A
NM_018668.5:c.1326C>A MANE Select NP_061138.3:p.Leu442=