Canonical Allele Identifier: CA1805821236
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99642102G= , CM000670.2:g.99642102G= GRCh38
NC_000008.10:g.100654330G= , CM000670.1:g.100654330G= GRCh37
NC_000008.9:g.100723506G= NCBI36
NG_007098.2:g.633837G= , LRG_351:g.633837G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.5587G= ENSP00000507923.1:p.Glu1863=
ENST00000682358.1:n.5657G=
ENST00000683334.1:c.*1269G= ENSP00000507369.1:n.*1269G=
ENST00000357162.7:c.5512G= MANE Select ENSP00000349685.2:p.Glu1838=
ENST00000358544.7:c.5587G= MANE Plus Clinical ENSP00000351346.2:p.Glu1863=
ENST00000357162.6:c.5512G= ENSP00000349685.2:p.Glu1838=
ENST00000358544.6:c.5587G= ENSP00000351346.2:p.Glu1863=
NM_017890.4:c.5587G= , LRG_351t1:c.5587G= NP_060360.3:p.Glu1863=
NM_152564.4:c.5512G= , LRG_351t2:c.5512G= NP_689777.3:p.Glu1838=
XM_005250800.2:c.5587G= XP_005250857.1:p.Glu1863=
XM_005250801.3:c.5587G= XP_005250858.1:p.Glu1863=
XM_011516848.1:c.5584G= XP_011515150.1:p.Glu1862=
XM_011516849.1:c.5509G= XP_011515151.1:p.Glu1837=
XM_011516850.1:c.5209G= XP_011515152.1:p.Glu1737=
XM_011516851.1:c.2473G= XP_011515153.1:p.Glu825=
XM_011516852.1:c.2473G= XP_011515154.1:p.Glu825=
XM_011516853.1:c.5587G= XP_011515155.1:p.Glu1863=
XM_011516854.1:c.1366G= XP_011515156.1:p.Glu456=
XM_005250800.3:c.5587G= XP_005250857.1:p.Glu1863=
XM_005250801.5:c.5587G= XP_005250858.1:p.Glu1863=
XM_011516848.2:c.5584G= XP_011515150.1:p.Glu1862=
XM_011516849.2:c.5509G= XP_011515151.1:p.Glu1837=
XM_011516850.2:c.5209G= XP_011515152.1:p.Glu1737=
XM_011516851.2:c.2473G= XP_011515153.1:p.Glu825=
XM_011516852.2:c.2473G= XP_011515154.1:p.Glu825=
XM_011516853.2:c.5587G= XP_011515155.1:p.Glu1863=
XM_011516854.2:c.1366G= XP_011515156.1:p.Glu456=
XM_017013109.1:c.5392G= XP_016868598.1:p.Glu1798=
XM_017013111.1:c.2473G= XP_016868600.1:p.Glu825=
XM_017013112.1:c.1144G= XP_016868601.1:p.Glu382=
XM_024447074.1:c.4372G= XP_024302842.1:p.Glu1458=
XR_001745482.2:n.5548G=
NM_017890.5:c.5587G= MANE Plus Clinical NP_060360.3:p.Glu1863=
NM_152564.5:c.5512G= MANE Select NP_689777.3:p.Glu1838=