Canonical Allele Identifier: CA4823657

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99556451A>G , CM000670.2:g.99556451A>G	GRCh38
NC_000008.10:g.100568679A>G , CM000670.1:g.100568679A>G	GRCh37
NC_000008.9:g.100637855A>G	NCBI36
NG_007098.2:g.548186A>G , LRG_351:g.548186A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_152564.5:c.4747A>G MANE Select	NP_689777.3:p.Arg1583Gly
ENST00000357162.7:c.4747A>G MANE Select	ENSP00000349685.2:p.Arg1583Gly
NM_017890.5:c.4822A>G MANE Plus Clinical	NP_060360.3:p.Arg1608Gly
ENST00000358544.7:c.4822A>G MANE Plus Clinical	ENSP00000351346.2:p.Arg1608Gly
NM_017890.4:c.4822A>G , LRG_351t1:c.4822A>G	NP_060360.3:p.Arg1608Gly
NM_152564.4:c.4747A>G , LRG_351t2:c.4747A>G	NP_689777.3:p.Arg1583Gly
ENST00000357162.6:c.4747A>G	ENSP00000349685.2:p.Arg1583Gly
ENST00000358544.6:c.4822A>G	ENSP00000351346.2:p.Arg1608Gly
ENST00000496144.5:c.*605A>G	ENSP00000430900.1:n.*605A>G
ENST00000521559.1:c.113-19207A>G
ENST00000682153.1:c.4822A>G	ENSP00000507923.1:p.Arg1608Gly
ENST00000682358.1:n.4892A>G
ENST00000683334.1:c.*504A>G	ENSP00000507369.1:n.*504A>G
XM_005250800.2:c.4822A>G	XP_005250857.1:p.Arg1608Gly
XM_005250800.3:c.4822A>G	XP_005250857.1:p.Arg1608Gly
XM_005250801.3:c.4822A>G	XP_005250858.1:p.Arg1608Gly
XM_005250801.5:c.4822A>G	XP_005250858.1:p.Arg1608Gly
XM_006716510.2:c.4822A>G	XP_006716573.1:p.Arg1608Gly
XM_006716510.3:c.4822A>G	XP_006716573.1:p.Arg1608Gly
XM_011516848.1:c.4819A>G	XP_011515150.1:p.Arg1607Gly
XM_011516848.2:c.4819A>G	XP_011515150.1:p.Arg1607Gly
XM_011516849.1:c.4744A>G	XP_011515151.1:p.Arg1582Gly
XM_011516849.2:c.4744A>G	XP_011515151.1:p.Arg1582Gly
XM_011516850.1:c.4444A>G	XP_011515152.1:p.Arg1482Gly
XM_011516850.2:c.4444A>G	XP_011515152.1:p.Arg1482Gly
XM_011516851.1:c.1708A>G	XP_011515153.1:p.Arg570Gly
XM_011516851.2:c.1708A>G	XP_011515153.1:p.Arg570Gly
XM_011516852.1:c.1708A>G	XP_011515154.1:p.Arg570Gly
XM_011516852.2:c.1708A>G	XP_011515154.1:p.Arg570Gly
XM_011516853.1:c.4822A>G	XP_011515155.1:p.Arg1608Gly
XM_011516853.2:c.4822A>G	XP_011515155.1:p.Arg1608Gly
XM_011516854.1:c.601A>G	XP_011515156.1:p.Arg201Gly
XM_011516854.2:c.601A>G	XP_011515156.1:p.Arg201Gly
XM_017013109.1:c.4627A>G	XP_016868598.1:p.Arg1543Gly
XM_017013111.1:c.1708A>G	XP_016868600.1:p.Arg570Gly
XM_017013112.1:c.379A>G	XP_016868601.1:p.Arg127Gly
XM_024447074.1:c.3607A>G	XP_024302842.1:p.Arg1203Gly
XR_001745482.2:n.4783A>G
XR_928301.1:n.4925A>G
XR_928302.1:n.4925A>G
XR_928302.2:n.4925A>G
XR_928303.1:n.4925A>G
XR_928304.1:n.4992A>G