Canonical Allele Identifier: CA462445302

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99556453A>G , CM000670.2:g.99556453A>G	GRCh38
NC_000008.10:g.100568681A>G , CM000670.1:g.100568681A>G	GRCh37
NC_000008.9:g.100637857A>G	NCBI36
NG_007098.2:g.548188A>G , LRG_351:g.548188A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_152564.5:c.4749A>G MANE Select	NP_689777.3:p.Arg1583=
ENST00000357162.7:c.4749A>G MANE Select	ENSP00000349685.2:p.Arg1583=
NM_017890.5:c.4824A>G MANE Plus Clinical	NP_060360.3:p.Arg1608=
ENST00000358544.7:c.4824A>G MANE Plus Clinical	ENSP00000351346.2:p.Arg1608=
NM_017890.4:c.4824A>G , LRG_351t1:c.4824A>G	NP_060360.3:p.Arg1608=
NM_152564.4:c.4749A>G , LRG_351t2:c.4749A>G	NP_689777.3:p.Arg1583=
ENST00000357162.6:c.4749A>G	ENSP00000349685.2:p.Arg1583=
ENST00000358544.6:c.4824A>G	ENSP00000351346.2:p.Arg1608=
ENST00000496144.5:c.*607A>G	ENSP00000430900.1:n.*607A>G
ENST00000521559.1:c.113-19205A>G
ENST00000682153.1:c.4824A>G	ENSP00000507923.1:p.Arg1608=
ENST00000682358.1:n.4894A>G
ENST00000683334.1:c.*506A>G	ENSP00000507369.1:n.*506A>G
XM_005250800.2:c.4824A>G	XP_005250857.1:p.Arg1608=
XM_005250800.3:c.4824A>G	XP_005250857.1:p.Arg1608=
XM_005250801.3:c.4824A>G	XP_005250858.1:p.Arg1608=
XM_005250801.5:c.4824A>G	XP_005250858.1:p.Arg1608=
XM_006716510.2:c.4824A>G	XP_006716573.1:p.Arg1608=
XM_006716510.3:c.4824A>G	XP_006716573.1:p.Arg1608=
XM_011516848.1:c.4821A>G	XP_011515150.1:p.Arg1607=
XM_011516848.2:c.4821A>G	XP_011515150.1:p.Arg1607=
XM_011516849.1:c.4746A>G	XP_011515151.1:p.Arg1582=
XM_011516849.2:c.4746A>G	XP_011515151.1:p.Arg1582=
XM_011516850.1:c.4446A>G	XP_011515152.1:p.Arg1482=
XM_011516850.2:c.4446A>G	XP_011515152.1:p.Arg1482=
XM_011516851.1:c.1710A>G	XP_011515153.1:p.Arg570=
XM_011516851.2:c.1710A>G	XP_011515153.1:p.Arg570=
XM_011516852.1:c.1710A>G	XP_011515154.1:p.Arg570=
XM_011516852.2:c.1710A>G	XP_011515154.1:p.Arg570=
XM_011516853.1:c.4824A>G	XP_011515155.1:p.Arg1608=
XM_011516853.2:c.4824A>G	XP_011515155.1:p.Arg1608=
XM_011516854.1:c.603A>G	XP_011515156.1:p.Arg201=
XM_011516854.2:c.603A>G	XP_011515156.1:p.Arg201=
XM_017013109.1:c.4629A>G	XP_016868598.1:p.Arg1543=
XM_017013111.1:c.1710A>G	XP_016868600.1:p.Arg570=
XM_017013112.1:c.381A>G	XP_016868601.1:p.Arg127=
XM_024447074.1:c.3609A>G	XP_024302842.1:p.Arg1203=
XR_001745482.2:n.4785A>G
XR_928301.1:n.4927A>G
XR_928302.1:n.4927A>G
XR_928302.2:n.4927A>G
XR_928303.1:n.4927A>G
XR_928304.1:n.4994A>G