Canonical Allele Identifier: CA371790286

Gene: VPS13B

Linked Data

• dbSNP Id: rs1295201527
• gnomAD v2: 8-100874031-C-A
• gnomAD v4: 8-99861803-C-A
• MyVariant Identifiers: chr8:g.100874031C>A (hg19) ; chr8:g.99861803C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861803C>A , CM000670.2:g.99861803C>A	GRCh38
NC_000008.10:g.100874031C>A , CM000670.1:g.100874031C>A	GRCh37
NC_000008.9:g.100943207C>A	NCBI36
NG_007098.2:g.853538C>A , LRG_351:g.853538C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*241C>A	ENSP00000507923.1:n.*241C>A
ENST00000682358.1:n.11217C>A
ENST00000683334.1:c.*6829C>A	ENSP00000507369.1:n.*6829C>A
ENST00000357162.7:c.11072C>A MANE Select	ENSP00000349685.2:p.Ala3691Asp
ENST00000358544.7:c.11147C>A MANE Plus Clinical	ENSP00000351346.2:p.Ala3716Asp
ENST00000357162.6:c.11072C>A	ENSP00000349685.2:p.Ala3691Asp
ENST00000358544.6:c.11147C>A	ENSP00000351346.2:p.Ala3716Asp
NM_017890.4:c.11147C>A , LRG_351t1:c.11147C>A	NP_060360.3:p.Ala3716Asp
NM_152564.4:c.11072C>A , LRG_351t2:c.11072C>A	NP_689777.3:p.Ala3691Asp
XM_005250800.2:c.11147C>A	XP_005250857.1:p.Ala3716Asp
XM_005250801.3:c.11147C>A	XP_005250858.1:p.Ala3716Asp
XM_011516848.1:c.11144C>A	XP_011515150.1:p.Ala3715Asp
XM_011516849.1:c.11069C>A	XP_011515151.1:p.Ala3690Asp
XM_011516850.1:c.10769C>A	XP_011515152.1:p.Ala3590Asp
XM_011516851.1:c.8033C>A	XP_011515153.1:p.Ala2678Asp
XM_011516852.1:c.8033C>A	XP_011515154.1:p.Ala2678Asp
XM_011516854.1:c.6926C>A	XP_011515156.1:p.Ala2309Asp
XM_005250800.3:c.11147C>A	XP_005250857.1:p.Ala3716Asp
XM_005250801.5:c.11147C>A	XP_005250858.1:p.Ala3716Asp
XM_011516848.2:c.11144C>A	XP_011515150.1:p.Ala3715Asp
XM_011516849.2:c.11069C>A	XP_011515151.1:p.Ala3690Asp
XM_011516850.2:c.10769C>A	XP_011515152.1:p.Ala3590Asp
XM_011516851.2:c.8033C>A	XP_011515153.1:p.Ala2678Asp
XM_011516852.2:c.8033C>A	XP_011515154.1:p.Ala2678Asp
XM_011516854.2:c.6926C>A	XP_011515156.1:p.Ala2309Asp
XM_017013109.1:c.10952C>A	XP_016868598.1:p.Ala3651Asp
XM_017013111.1:c.8033C>A	XP_016868600.1:p.Ala2678Asp
XM_017013112.1:c.6704C>A	XP_016868601.1:p.Ala2235Asp
XM_024447074.1:c.9932C>A	XP_024302842.1:p.Ala3311Asp
NM_017890.5:c.11147C>A MANE Plus Clinical	NP_060360.3:p.Ala3716Asp
NM_152564.5:c.11072C>A MANE Select	NP_689777.3:p.Ala3691Asp