Canonical Allele Identifier: CA1630835191
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99819365C= , CM000670.2:g.99819365C= GRCh38
NC_000008.10:g.100831593C= , CM000670.1:g.100831593C= GRCh37
NC_000008.9:g.100900769C= NCBI36
NG_007098.2:g.811100C= , LRG_351:g.811100C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.8697-47C= ENSP00000507923.1:n.8697-47C=
ENST00000682358.1:n.8767-47C=
ENST00000683334.1:c.*4379-47C= ENSP00000507369.1:n.*4379-47C=
ENST00000357162.7:c.8622-47C= MANE Select ENSP00000349685.2:n.8622-47C=
ENST00000358544.7:c.8697-47C= MANE Plus Clinical ENSP00000351346.2:n.8697-47C=
ENST00000357162.6:c.8622-47C= ENSP00000349685.2:n.8622-47C=
ENST00000358544.6:c.8697-47C= ENSP00000351346.2:n.8697-47C=
NM_017890.4:c.8697-47C= , LRG_351t1:c.8697-47C= NP_060360.3:n.8697-47C=
NM_152564.4:c.8622-47C= , LRG_351t2:c.8622-47C= NP_689777.3:n.8622-47C=
XM_005250800.2:c.8697-47C= XP_005250857.1:n.8697-47C=
XM_005250801.3:c.8697-47C= XP_005250858.1:n.8697-47C=
XM_011516848.1:c.8694-47C= XP_011515150.1:n.8694-47C=
XM_011516849.1:c.8619-47C= XP_011515151.1:n.8619-47C=
XM_011516850.1:c.8319-47C= XP_011515152.1:n.8319-47C=
XM_011516851.1:c.5583-47C= XP_011515153.1:n.5583-47C=
XM_011516852.1:c.5583-47C= XP_011515154.1:n.5583-47C=
XM_011516854.1:c.4476-47C= XP_011515156.1:n.4476-47C=
XM_005250800.3:c.8697-47C= XP_005250857.1:n.8697-47C=
XM_005250801.5:c.8697-47C= XP_005250858.1:n.8697-47C=
XM_011516848.2:c.8694-47C= XP_011515150.1:n.8694-47C=
XM_011516849.2:c.8619-47C= XP_011515151.1:n.8619-47C=
XM_011516850.2:c.8319-47C= XP_011515152.1:n.8319-47C=
XM_011516851.2:c.5583-47C= XP_011515153.1:n.5583-47C=
XM_011516852.2:c.5583-47C= XP_011515154.1:n.5583-47C=
XM_011516854.2:c.4476-47C= XP_011515156.1:n.4476-47C=
XM_017013109.1:c.8502-47C= XP_016868598.1:n.8502-47C=
XM_017013111.1:c.5583-47C= XP_016868600.1:n.5583-47C=
XM_017013112.1:c.4254-47C= XP_016868601.1:n.4254-47C=
XM_024447074.1:c.7482-47C= XP_024302842.1:n.7482-47C=
NM_017890.5:c.8697-47C= MANE Plus Clinical NP_060360.3:n.8697-47C=
NM_152564.5:c.8622-47C= MANE Select NP_689777.3:n.8622-47C=