Canonical Allele Identifier: CA462338023

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99861780-C-A
• MyVariant Identifiers: chr8:g.100874008C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861780C>A , CM000670.2:g.99861780C>A	GRCh38
NC_000008.10:g.100874008C>A , CM000670.1:g.100874008C>A	GRCh37
NC_000008.9:g.100943184C>A	NCBI36
NG_007098.2:g.853515C>A , LRG_351:g.853515C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*218C>A	ENSP00000507923.1:n.*218C>A
ENST00000682358.1:n.11194C>A
ENST00000683334.1:c.*6806C>A	ENSP00000507369.1:n.*6806C>A
ENST00000357162.7:c.11049C>A MANE Select	ENSP00000349685.2:p.Thr3683=
ENST00000358544.7:c.11124C>A MANE Plus Clinical	ENSP00000351346.2:p.Thr3708=
ENST00000357162.6:c.11049C>A	ENSP00000349685.2:p.Thr3683=
ENST00000358544.6:c.11124C>A	ENSP00000351346.2:p.Thr3708=
NM_017890.4:c.11124C>A , LRG_351t1:c.11124C>A	NP_060360.3:p.Thr3708=
NM_152564.4:c.11049C>A , LRG_351t2:c.11049C>A	NP_689777.3:p.Thr3683=
XM_005250800.2:c.11124C>A	XP_005250857.1:p.Thr3708=
XM_005250801.3:c.11124C>A	XP_005250858.1:p.Thr3708=
XM_011516848.1:c.11121C>A	XP_011515150.1:p.Thr3707=
XM_011516849.1:c.11046C>A	XP_011515151.1:p.Thr3682=
XM_011516850.1:c.10746C>A	XP_011515152.1:p.Thr3582=
XM_011516851.1:c.8010C>A	XP_011515153.1:p.Thr2670=
XM_011516852.1:c.8010C>A	XP_011515154.1:p.Thr2670=
XM_011516854.1:c.6903C>A	XP_011515156.1:p.Thr2301=
XM_005250800.3:c.11124C>A	XP_005250857.1:p.Thr3708=
XM_005250801.5:c.11124C>A	XP_005250858.1:p.Thr3708=
XM_011516848.2:c.11121C>A	XP_011515150.1:p.Thr3707=
XM_011516849.2:c.11046C>A	XP_011515151.1:p.Thr3682=
XM_011516850.2:c.10746C>A	XP_011515152.1:p.Thr3582=
XM_011516851.2:c.8010C>A	XP_011515153.1:p.Thr2670=
XM_011516852.2:c.8010C>A	XP_011515154.1:p.Thr2670=
XM_011516854.2:c.6903C>A	XP_011515156.1:p.Thr2301=
XM_017013109.1:c.10929C>A	XP_016868598.1:p.Thr3643=
XM_017013111.1:c.8010C>A	XP_016868600.1:p.Thr2670=
XM_017013112.1:c.6681C>A	XP_016868601.1:p.Thr2227=
XM_024447074.1:c.9909C>A	XP_024302842.1:p.Thr3303=
NM_017890.5:c.11124C>A MANE Plus Clinical	NP_060360.3:p.Thr3708=
NM_152564.5:c.11049C>A MANE Select	NP_689777.3:p.Thr3683=