Canonical Allele Identifier: CA16041251
Gene: VPS13B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370652
ClinVar RCV Id: RCV000410123
dbSNP Id: rs1057516660

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99766903A>T , CM000670.2:g.99766903A>T GRCh38
NC_000008.9:g.100848307A>T NCBI36
NC_000008.10:g.100779131A>T , CM000670.1:g.100779131A>T GRCh37
NG_007098.2:g.758638A>T , LRG_351:g.758638A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000357162.6:c.7180A>T ENSP00000349685.2:p.Lys2394Ter
ENST00000358544.6:c.7255A>T ENSP00000351346.2:p.Lys2419Ter
ENST00000518569.1:n.310A>T
NM_017890.4:c.7255A>T , LRG_351t1:c.7255A>T NP_060360.3:p.Lys2419Ter
NM_152564.4:c.7180A>T , LRG_351t2:c.7180A>T NP_689777.3:p.Lys2394Ter
XM_005250800.2:c.7255A>T XP_005250857.1:p.Lys2419Ter
XM_005250801.3:c.7255A>T XP_005250858.1:p.Lys2419Ter
XM_011516848.1:c.7252A>T XP_011515150.1:p.Lys2418Ter
XM_011516849.1:c.7177A>T XP_011515151.1:p.Lys2393Ter
XM_011516850.1:c.6877A>T XP_011515152.1:p.Lys2293Ter
XM_011516851.1:c.4141A>T XP_011515153.1:p.Lys1381Ter
XM_011516852.1:c.4141A>T XP_011515154.1:p.Lys1381Ter
XM_011516853.1:c.7255A>T XP_011515155.1:p.Lys2419Ter
XM_011516854.1:c.3034A>T XP_011515156.1:p.Lys1012Ter
XR_928446.1:n.2065+3785T>A