Canonical Allele Identifier: CA16041217
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 370906
ClinVar RCV Id: RCV000412317
dbSNP Id: rs1057516857
MyVariant Identifiers: chr8:g.100050795G>A (hg19) chr8:g.99038567G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99038567G>A , CM000670.2:g.99038567G>A GRCh38
NC_000008.10:g.100050795G>A , CM000670.1:g.100050795G>A GRCh37
NC_000008.9:g.100119971G>A NCBI36
NG_007098.2:g.30302G>A , LRG_351:g.30302G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355155.6:c.291+1G>A ENSP00000347281.2:n.291+1G>A
ENST00000682145.1:n.360+1G>A
ENST00000682153.1:c.291+1G>A ENSP00000507923.1:n.291+1G>A
ENST00000682234.1:c.291+1G>A ENSP00000508225.1:n.291+1G>A
ENST00000682358.1:n.361+1G>A
ENST00000682806.1:n.392+1G>A
ENST00000682853.1:n.396+1G>A
ENST00000683334.1:c.291+1G>A ENSP00000507369.1:n.291+1G>A
ENST00000683486.1:n.357+1G>A
ENST00000683619.1:n.394+1G>A
ENST00000683869.1:n.372+1G>A
ENST00000684269.1:n.392+1G>A
ENST00000684308.1:n.357+1G>A
ENST00000357162.7:c.291+1G>A MANE Select ENSP00000349685.2:n.291+1G>A
ENST00000358544.7:c.291+1G>A MANE Plus Clinical ENSP00000351346.2:n.291+1G>A
ENST00000355155.5:c.291+1G>A ENSP00000347281.1:n.291+1G>A
ENST00000357162.6:c.291+1G>A ENSP00000349685.2:n.291+1G>A
ENST00000358544.6:c.291+1G>A ENSP00000351346.2:n.291+1G>A
ENST00000441350.2:c.291+1G>A ENSP00000398472.2:n.291+1G>A
ENST00000496144.5:c.291+1G>A ENSP00000430900.1:n.291+1G>A
NM_015243.2:c.291+1G>A , LRG_351t3:c.291+1G>A NP_056058.2:n.291+1G>A
NM_017890.4:c.291+1G>A , LRG_351t1:c.291+1G>A NP_060360.3:n.291+1G>A
NM_152564.4:c.291+1G>A , LRG_351t2:c.291+1G>A NP_689777.3:n.291+1G>A
NM_181661.2:c.291+1G>A , LRG_351t4:c.291+1G>A NP_858047.2:n.291+1G>A
NR_047582.1:n.402+1G>A
XM_005250800.2:c.291+1G>A XP_005250857.1:n.291+1G>A
XM_005250801.3:c.291+1G>A XP_005250858.1:n.291+1G>A
XM_006716510.2:c.291+1G>A XP_006716573.1:n.291+1G>A
XM_006716511.2:c.291+1G>A XP_006716574.1:n.291+1G>A
XM_011516848.1:c.291+1G>A XP_011515150.1:n.291+1G>A
XM_011516849.1:c.291+1G>A XP_011515151.1:n.291+1G>A
XM_011516853.1:c.291+1G>A XP_011515155.1:n.291+1G>A
XM_011516855.1:c.291+1G>A XP_011515157.1:n.291+1G>A
XM_011516856.1:c.291+1G>A XP_011515158.1:n.291+1G>A
XM_011516857.1:c.291+1G>A XP_011515159.1:n.291+1G>A
XM_011516858.1:c.291+1G>A XP_011515160.1:n.291+1G>A
XM_011516859.1:c.291+1G>A XP_011515161.1:n.291+1G>A
XM_011516860.1:c.291+1G>A XP_011515162.1:n.291+1G>A
XM_011516861.1:c.291+1G>A XP_011515163.1:n.291+1G>A
XM_011516862.1:c.291+1G>A XP_011515164.1:n.291+1G>A
XM_011516863.1:c.291+1G>A XP_011515165.1:n.291+1G>A
XM_011516864.1:c.291+1G>A XP_011515166.1:n.291+1G>A
XM_011516865.1:c.291+1G>A XP_011515167.1:n.291+1G>A
XM_011516866.1:c.291+1G>A XP_011515168.1:n.291+1G>A
XR_928301.1:n.394+1G>A
XR_928302.1:n.394+1G>A
XR_928303.1:n.394+1G>A
XR_928304.1:n.394+1G>A
XM_005250800.3:c.291+1G>A XP_005250857.1:n.291+1G>A
XM_005250801.5:c.291+1G>A XP_005250858.1:n.291+1G>A
XM_006716510.3:c.291+1G>A XP_006716573.1:n.291+1G>A
XM_011516848.2:c.291+1G>A XP_011515150.1:n.291+1G>A
XM_011516849.2:c.291+1G>A XP_011515151.1:n.291+1G>A
XM_011516853.2:c.291+1G>A XP_011515155.1:n.291+1G>A
XM_011516859.2:c.291+1G>A XP_011515161.1:n.291+1G>A
XM_011516866.2:c.291+1G>A XP_011515168.1:n.291+1G>A
XM_017013109.1:c.291+1G>A XP_016868598.1:n.291+1G>A
XM_024447074.1:c.-1037+1G>A XP_024302842.1:n.-1037+1G>A
XM_024447075.1:c.291+1G>A XP_024302843.1:n.291+1G>A
XR_001745481.1:n.394+1G>A
XR_001745482.2:n.394+1G>A
XR_001745484.2:n.394+1G>A
XR_002956601.1:n.394+1G>A
XR_002956602.1:n.394+1G>A
XR_928302.2:n.394+1G>A
NM_015243.3:c.291+1G>A NP_056058.2:n.291+1G>A
NM_017890.5:c.291+1G>A MANE Plus Clinical NP_060360.3:n.291+1G>A
NM_152564.5:c.291+1G>A MANE Select NP_689777.3:n.291+1G>A
NM_181661.3:c.291+1G>A NP_858047.2:n.291+1G>A
NR_047582.2:n.394+1G>A
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