Canonical Allele Identifier: CA16041216
Gene: VPS13B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371129
ClinVar RCV Id: RCV000410983
dbSNP Id: rs1057517029

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99013936G>A , CM000670.2:g.99013936G>A GRCh38
NC_000008.10:g.100026164G>A , CM000670.1:g.100026164G>A GRCh37
NC_000008.9:g.100095340G>A NCBI36
NG_007098.2:g.5671G>A , LRG_351:g.5671G>A

Transcript Alleles

HGVS Amino-acid change
NM_015243.2:c.147+1G>A , LRG_351t3:c.147+1G>A NP_056058.2:p.=
NM_017890.4:c.147+1G>A , LRG_351t1:c.147+1G>A NP_060360.3:p.=
NM_152564.4:c.147+1G>A , LRG_351t2:c.147+1G>A NP_689777.3:p.=
NM_181661.2:c.147+1G>A , LRG_351t4:c.147+1G>A NP_858047.2:p.=
NR_047582.1:n.258+1G>A
XM_005250800.2:c.147+1G>A XP_005250857.1:p.=
XM_005250801.3:c.147+1G>A XP_005250858.1:p.=
XM_006716510.2:c.147+1G>A XP_006716573.1:p.=
XM_006716511.2:c.147+1G>A XP_006716574.1:p.=
XM_011516848.1:c.147+1G>A XP_011515150.1:p.=
XM_011516849.1:c.147+1G>A XP_011515151.1:p.=
XM_011516853.1:c.147+1G>A XP_011515155.1:p.=
XM_011516855.1:c.147+1G>A XP_011515157.1:p.=
XM_011516856.1:c.147+1G>A XP_011515158.1:p.=
XM_011516857.1:c.147+1G>A XP_011515159.1:p.=
XM_011516858.1:c.147+1G>A XP_011515160.1:p.=
XM_011516859.1:c.147+1G>A XP_011515161.1:p.=
XM_011516860.1:c.147+1G>A XP_011515162.1:p.=
XM_011516861.1:c.147+1G>A XP_011515163.1:p.=
XM_011516862.1:c.147+1G>A XP_011515164.1:p.=
XM_011516863.1:c.147+1G>A XP_011515165.1:p.=
XM_011516864.1:c.147+1G>A XP_011515166.1:p.=
XM_011516865.1:c.147+1G>A XP_011515167.1:p.=
XM_011516866.1:c.147+1G>A XP_011515168.1:p.=
XR_928301.1:n.250+1G>A
XR_928302.1:n.250+1G>A
XR_928303.1:n.250+1G>A
XR_928304.1:n.250+1G>A
XM_005250800.3:c.147+1G>A
XM_005250801.5:c.147+1G>A
XM_006716510.3:c.147+1G>A
XM_011516848.2:c.147+1G>A
XM_011516849.2:c.147+1G>A
XM_011516853.2:c.147+1G>A
XM_011516859.2:c.147+1G>A
XM_011516866.2:c.147+1G>A
XM_017013109.1:c.147+1G>A XP_016868598.1:p.=
XM_024447074.1:c.-1181+1G>A XP_024302842.1:p.=
XM_024447075.1:c.147+1G>A XP_024302843.1:p.=
XR_001745481.1:n.250+1G>A
XR_001745482.2:n.250+1G>A
XR_001745484.2:n.250+1G>A
XR_002956601.1:n.250+1G>A
XR_002956602.1:n.250+1G>A
XR_928302.2:n.250+1G>A
ENST00000355155.5:c.147+1G>A ENSP00000347281.1:p.=
ENST00000357162.6:c.147+1G>A ENSP00000349685.2:p.=
ENST00000358544.6:c.147+1G>A ENSP00000351346.2:p.=
ENST00000441350.2:c.147+1G>A ENSP00000398472.2:p.=
ENST00000496144.5:c.147+1G>A ENSP00000430900.1:p.=