Canonical Allele Identifier: CA16041274
Gene: VPS13B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371653
ClinVar RCV Id: RCV000412099
dbSNP Id: rs1057517441

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99868288G>A , CM000670.2:g.99868288G>A GRCh38
NC_000008.10:g.100880516G>A , CM000670.1:g.100880516G>A GRCh37
NC_000008.9:g.100949692G>A NCBI36
NG_007098.2:g.860023G>A , LRG_351:g.860023G>A

Transcript Alleles

HGVS Amino-acid change
NM_017890.4:c.11291-1G>A , LRG_351t1:c.11291-1G>A NP_060360.3:p.=
NM_152564.4:c.11216-1G>A , LRG_351t2:c.11216-1G>A NP_689777.3:p.=
XM_005250800.2:c.11291-1G>A XP_005250857.1:p.=
XM_005250801.3:c.11291-1G>A XP_005250858.1:p.=
XM_011516848.1:c.11288-1G>A XP_011515150.1:p.=
XM_011516849.1:c.11213-1G>A XP_011515151.1:p.=
XM_011516850.1:c.10913-1G>A XP_011515152.1:p.=
XM_011516851.1:c.8177-1G>A XP_011515153.1:p.=
XM_011516852.1:c.8177-1G>A XP_011515154.1:p.=
XM_011516854.1:c.7070-1G>A XP_011515156.1:p.=
XM_005250800.3:c.11291-1G>A
XM_005250801.5:c.11291-1G>A
XM_011516848.2:c.11288-1G>A
XM_011516849.2:c.11213-1G>A
XM_011516850.2:c.10913-1G>A
XM_011516851.2:c.8177-1G>A
XM_011516852.2:c.8177-1G>A
XM_011516854.2:c.7070-1G>A
XM_017013109.1:c.11096-1G>A XP_016868598.1:p.=
XM_017013111.1:c.8177-1G>A XP_016868600.1:p.=
XM_017013112.1:c.6848-1G>A XP_016868601.1:p.=
XM_024447074.1:c.10076-1G>A XP_024302842.1:p.=
ENST00000357162.6:c.11216-1G>A ENSP00000349685.2:p.=
ENST00000358544.6:c.11291-1G>A ENSP00000351346.2:p.=
ENST00000493587.1:n.232G>A