Canonical Allele Identifier: CA371791694

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100880517G>A (hg19) ; chr8:g.99868289G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868289G>A , CM000670.2:g.99868289G>A	GRCh38
NC_000008.10:g.100880517G>A , CM000670.1:g.100880517G>A	GRCh37
NC_000008.9:g.100949693G>A	NCBI36
NG_007098.2:g.860024G>A , LRG_351:g.860024G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*385G>A	ENSP00000507923.1:n.*385G>A
ENST00000682358.1:n.11361G>A
ENST00000683334.1:c.*6973G>A	ENSP00000507369.1:n.*6973G>A
ENST00000357162.7:c.11216G>A MANE Select	ENSP00000349685.2:p.Gly3739Asp
ENST00000358544.7:c.11291G>A MANE Plus Clinical	ENSP00000351346.2:p.Gly3764Asp
ENST00000357162.6:c.11216G>A	ENSP00000349685.2:p.Gly3739Asp
ENST00000358544.6:c.11291G>A	ENSP00000351346.2:p.Gly3764Asp
ENST00000493587.1:n.233G>A
NM_017890.4:c.11291G>A , LRG_351t1:c.11291G>A	NP_060360.3:p.Gly3764Asp
NM_152564.4:c.11216G>A , LRG_351t2:c.11216G>A	NP_689777.3:p.Gly3739Asp
XM_005250800.2:c.11291G>A	XP_005250857.1:p.Gly3764Asp
XM_005250801.3:c.11291G>A	XP_005250858.1:p.Gly3764Asp
XM_011516848.1:c.11288G>A	XP_011515150.1:p.Gly3763Asp
XM_011516849.1:c.11213G>A	XP_011515151.1:p.Gly3738Asp
XM_011516850.1:c.10913G>A	XP_011515152.1:p.Gly3638Asp
XM_011516851.1:c.8177G>A	XP_011515153.1:p.Gly2726Asp
XM_011516852.1:c.8177G>A	XP_011515154.1:p.Gly2726Asp
XM_011516854.1:c.7070G>A	XP_011515156.1:p.Gly2357Asp
XM_005250800.3:c.11291G>A	XP_005250857.1:p.Gly3764Asp
XM_005250801.5:c.11291G>A	XP_005250858.1:p.Gly3764Asp
XM_011516848.2:c.11288G>A	XP_011515150.1:p.Gly3763Asp
XM_011516849.2:c.11213G>A	XP_011515151.1:p.Gly3738Asp
XM_011516850.2:c.10913G>A	XP_011515152.1:p.Gly3638Asp
XM_011516851.2:c.8177G>A	XP_011515153.1:p.Gly2726Asp
XM_011516852.2:c.8177G>A	XP_011515154.1:p.Gly2726Asp
XM_011516854.2:c.7070G>A	XP_011515156.1:p.Gly2357Asp
XM_017013109.1:c.11096G>A	XP_016868598.1:p.Gly3699Asp
XM_017013111.1:c.8177G>A	XP_016868600.1:p.Gly2726Asp
XM_017013112.1:c.6848G>A	XP_016868601.1:p.Gly2283Asp
XM_024447074.1:c.10076G>A	XP_024302842.1:p.Gly3359Asp
NM_017890.5:c.11291G>A MANE Plus Clinical	NP_060360.3:p.Gly3764Asp
NM_152564.5:c.11216G>A MANE Select	NP_689777.3:p.Gly3739Asp