Canonical Allele Identifier: CA2838140036
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99861802G= , CM000670.2:g.99861802G= GRCh38
NC_000008.10:g.100874030G= , CM000670.1:g.100874030G= GRCh37
NC_000008.9:g.100943206G= NCBI36
NG_007098.2:g.853537G= , LRG_351:g.853537G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.*240G= ENSP00000507923.1:n.*240G=
ENST00000682358.1:n.11216G=
ENST00000683334.1:c.*6828G= ENSP00000507369.1:n.*6828G=
ENST00000357162.7:c.11071G= MANE Select ENSP00000349685.2:p.Ala3691=
ENST00000358544.7:c.11146G= MANE Plus Clinical ENSP00000351346.2:p.Ala3716=
ENST00000357162.6:c.11071G= ENSP00000349685.2:p.Ala3691=
ENST00000358544.6:c.11146G= ENSP00000351346.2:p.Ala3716=
NM_017890.4:c.11146G= , LRG_351t1:c.11146G= NP_060360.3:p.Ala3716=
NM_152564.4:c.11071G= , LRG_351t2:c.11071G= NP_689777.3:p.Ala3691=
XM_005250800.2:c.11146G= XP_005250857.1:p.Ala3716=
XM_005250801.3:c.11146G= XP_005250858.1:p.Ala3716=
XM_011516848.1:c.11143G= XP_011515150.1:p.Ala3715=
XM_011516849.1:c.11068G= XP_011515151.1:p.Ala3690=
XM_011516850.1:c.10768G= XP_011515152.1:p.Ala3590=
XM_011516851.1:c.8032G= XP_011515153.1:p.Ala2678=
XM_011516852.1:c.8032G= XP_011515154.1:p.Ala2678=
XM_011516854.1:c.6925G= XP_011515156.1:p.Ala2309=
XM_005250800.3:c.11146G= XP_005250857.1:p.Ala3716=
XM_005250801.5:c.11146G= XP_005250858.1:p.Ala3716=
XM_011516848.2:c.11143G= XP_011515150.1:p.Ala3715=
XM_011516849.2:c.11068G= XP_011515151.1:p.Ala3690=
XM_011516850.2:c.10768G= XP_011515152.1:p.Ala3590=
XM_011516851.2:c.8032G= XP_011515153.1:p.Ala2678=
XM_011516852.2:c.8032G= XP_011515154.1:p.Ala2678=
XM_011516854.2:c.6925G= XP_011515156.1:p.Ala2309=
XM_017013109.1:c.10951G= XP_016868598.1:p.Ala3651=
XM_017013111.1:c.8032G= XP_016868600.1:p.Ala2678=
XM_017013112.1:c.6703G= XP_016868601.1:p.Ala2235=
XM_024447074.1:c.9931G= XP_024302842.1:p.Ala3311=
NM_017890.5:c.11146G= MANE Plus Clinical NP_060360.3:p.Ala3716=
NM_152564.5:c.11071G= MANE Select NP_689777.3:p.Ala3691=