Canonical Allele Identifier: CA16041250
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 370527
ClinVar RCV Id: RCV000411146
dbSNP Id: rs1057516559

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99766796G>A , CM000670.2:g.99766796G>A GRCh38
NC_000008.10:g.100779024G>A , CM000670.1:g.100779024G>A GRCh37
NC_000008.9:g.100848200G>A NCBI36
NG_007098.2:g.758531G>A , LRG_351:g.758531G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.7148G>A ENSP00000507923.1:p.Trp2383Ter
ENST00000682358.1:n.7218G>A
ENST00000683334.1:c.*2830G>A ENSP00000507369.1:n.*2830G>A
ENST00000357162.7:c.7073G>A MANE Select ENSP00000349685.2:p.Trp2358Ter
ENST00000358544.7:c.7148G>A MANE Plus Clinical ENSP00000351346.2:p.Trp2383Ter
ENST00000357162.6:c.7073G>A ENSP00000349685.2:p.Trp2358Ter
ENST00000358544.6:c.7148G>A ENSP00000351346.2:p.Trp2383Ter
ENST00000518569.1:n.203G>A
NM_017890.4:c.7148G>A , LRG_351t1:c.7148G>A NP_060360.3:p.Trp2383Ter
NM_152564.4:c.7073G>A , LRG_351t2:c.7073G>A NP_689777.3:p.Trp2358Ter
XM_005250800.2:c.7148G>A XP_005250857.1:p.Trp2383Ter
XM_005250801.3:c.7148G>A XP_005250858.1:p.Trp2383Ter
XM_011516848.1:c.7145G>A XP_011515150.1:p.Trp2382Ter
XM_011516849.1:c.7070G>A XP_011515151.1:p.Trp2357Ter
XM_011516850.1:c.6770G>A XP_011515152.1:p.Trp2257Ter
XM_011516851.1:c.4034G>A XP_011515153.1:p.Trp1345Ter
XM_011516852.1:c.4034G>A XP_011515154.1:p.Trp1345Ter
XM_011516853.1:c.7148G>A XP_011515155.1:p.Trp2383Ter
XM_011516854.1:c.2927G>A XP_011515156.1:p.Trp976Ter
XR_928446.1:n.2065+3892C>T
XM_005250800.3:c.7148G>A XP_005250857.1:p.Trp2383Ter
XM_005250801.5:c.7148G>A XP_005250858.1:p.Trp2383Ter
XM_011516848.2:c.7145G>A XP_011515150.1:p.Trp2382Ter
XM_011516849.2:c.7070G>A XP_011515151.1:p.Trp2357Ter
XM_011516850.2:c.6770G>A XP_011515152.1:p.Trp2257Ter
XM_011516851.2:c.4034G>A XP_011515153.1:p.Trp1345Ter
XM_011516852.2:c.4034G>A XP_011515154.1:p.Trp1345Ter
XM_011516853.2:c.7148G>A XP_011515155.1:p.Trp2383Ter
XM_011516854.2:c.2927G>A XP_011515156.1:p.Trp976Ter
XM_017013109.1:c.6953G>A XP_016868598.1:p.Trp2318Ter
XM_017013111.1:c.4034G>A XP_016868600.1:p.Trp1345Ter
XM_017013112.1:c.2705G>A XP_016868601.1:p.Trp902Ter
XM_024447074.1:c.5933G>A XP_024302842.1:p.Trp1978Ter
NM_017890.5:c.7148G>A MANE Plus Clinical NP_060360.3:p.Trp2383Ter
NM_152564.5:c.7073G>A MANE Select NP_689777.3:p.Trp2358Ter