Canonical Allele Identifier: CA462457738

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99817755A>G , CM000670.2:g.99817755A>G	GRCh38
NC_000008.10:g.100829983A>G , CM000670.1:g.100829983A>G	GRCh37
NC_000008.9:g.100899159A>G	NCBI36
NG_007098.2:g.809490A>G , LRG_351:g.809490A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_152564.5:c.8313A>G MANE Select	NP_689777.3:p.Arg2771=
ENST00000357162.7:c.8313A>G MANE Select	ENSP00000349685.2:p.Arg2771=
NM_017890.5:c.8388A>G MANE Plus Clinical	NP_060360.3:p.Arg2796=
ENST00000358544.7:c.8388A>G MANE Plus Clinical	ENSP00000351346.2:p.Arg2796=
NM_017890.4:c.8388A>G , LRG_351t1:c.8388A>G	NP_060360.3:p.Arg2796=
NM_152564.4:c.8313A>G , LRG_351t2:c.8313A>G	NP_689777.3:p.Arg2771=
ENST00000357162.6:c.8313A>G	ENSP00000349685.2:p.Arg2771=
ENST00000358544.6:c.8388A>G	ENSP00000351346.2:p.Arg2796=
ENST00000682153.1:c.8388A>G	ENSP00000507923.1:p.Arg2796=
ENST00000682358.1:n.8458A>G
ENST00000683334.1:c.*4070A>G	ENSP00000507369.1:n.*4070A>G
XM_005250800.2:c.8388A>G	XP_005250857.1:p.Arg2796=
XM_005250800.3:c.8388A>G	XP_005250857.1:p.Arg2796=
XM_005250801.3:c.8388A>G	XP_005250858.1:p.Arg2796=
XM_005250801.5:c.8388A>G	XP_005250858.1:p.Arg2796=
XM_011516848.1:c.8385A>G	XP_011515150.1:p.Arg2795=
XM_011516848.2:c.8385A>G	XP_011515150.1:p.Arg2795=
XM_011516849.1:c.8310A>G	XP_011515151.1:p.Arg2770=
XM_011516849.2:c.8310A>G	XP_011515151.1:p.Arg2770=
XM_011516850.1:c.8010A>G	XP_011515152.1:p.Arg2670=
XM_011516850.2:c.8010A>G	XP_011515152.1:p.Arg2670=
XM_011516851.1:c.5274A>G	XP_011515153.1:p.Arg1758=
XM_011516851.2:c.5274A>G	XP_011515153.1:p.Arg1758=
XM_011516852.1:c.5274A>G	XP_011515154.1:p.Arg1758=
XM_011516852.2:c.5274A>G	XP_011515154.1:p.Arg1758=
XM_011516854.1:c.4167A>G	XP_011515156.1:p.Arg1389=
XM_011516854.2:c.4167A>G	XP_011515156.1:p.Arg1389=
XM_017013109.1:c.8193A>G	XP_016868598.1:p.Arg2731=
XM_017013111.1:c.5274A>G	XP_016868600.1:p.Arg1758=
XM_017013112.1:c.3945A>G	XP_016868601.1:p.Arg1315=
XM_024447074.1:c.7173A>G	XP_024302842.1:p.Arg2391=