Canonical Allele Identifier: CA371793573

Gene: VPS13B

Linked Data

• dbSNP Id: rs1817366080
• MyVariant Identifiers: chr8:g.100883031G>A (hg19) ; chr8:g.99870803G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99870803G>A , CM000670.2:g.99870803G>A	GRCh38
NC_000008.10:g.100883031G>A , CM000670.1:g.100883031G>A	GRCh37
NC_000008.9:g.100952207G>A	NCBI36
NG_007098.2:g.862538G>A , LRG_351:g.862538G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*580G>A	ENSP00000507923.1:n.*580G>A
ENST00000682358.1:n.11556G>A
ENST00000683334.1:c.*7168G>A	ENSP00000507369.1:n.*7168G>A
ENST00000357162.7:c.11411G>A MANE Select	ENSP00000349685.2:p.Gly3804Glu
ENST00000358544.7:c.11486G>A MANE Plus Clinical	ENSP00000351346.2:p.Gly3829Glu
ENST00000357162.6:c.11411G>A	ENSP00000349685.2:p.Gly3804Glu
ENST00000358544.6:c.11486G>A	ENSP00000351346.2:p.Gly3829Glu
ENST00000493587.1:n.428G>A
NM_017890.4:c.11486G>A , LRG_351t1:c.11486G>A	NP_060360.3:p.Gly3829Glu
NM_152564.4:c.11411G>A , LRG_351t2:c.11411G>A	NP_689777.3:p.Gly3804Glu
XM_005250800.2:c.11486G>A	XP_005250857.1:p.Gly3829Glu
XM_005250801.3:c.11486G>A	XP_005250858.1:p.Gly3829Glu
XM_011516848.1:c.11483G>A	XP_011515150.1:p.Gly3828Glu
XM_011516849.1:c.11408G>A	XP_011515151.1:p.Gly3803Glu
XM_011516850.1:c.11108G>A	XP_011515152.1:p.Gly3703Glu
XM_011516851.1:c.8372G>A	XP_011515153.1:p.Gly2791Glu
XM_011516852.1:c.8372G>A	XP_011515154.1:p.Gly2791Glu
XM_011516854.1:c.7265G>A	XP_011515156.1:p.Gly2422Glu
XM_005250800.3:c.11486G>A	XP_005250857.1:p.Gly3829Glu
XM_005250801.5:c.11486G>A	XP_005250858.1:p.Gly3829Glu
XM_011516848.2:c.11483G>A	XP_011515150.1:p.Gly3828Glu
XM_011516849.2:c.11408G>A	XP_011515151.1:p.Gly3803Glu
XM_011516850.2:c.11108G>A	XP_011515152.1:p.Gly3703Glu
XM_011516851.2:c.8372G>A	XP_011515153.1:p.Gly2791Glu
XM_011516852.2:c.8372G>A	XP_011515154.1:p.Gly2791Glu
XM_011516854.2:c.7265G>A	XP_011515156.1:p.Gly2422Glu
XM_017013109.1:c.11291G>A	XP_016868598.1:p.Gly3764Glu
XM_017013111.1:c.8372G>A	XP_016868600.1:p.Gly2791Glu
XM_017013112.1:c.7043G>A	XP_016868601.1:p.Gly2348Glu
XM_024447074.1:c.10271G>A	XP_024302842.1:p.Gly3424Glu
NM_017890.5:c.11486G>A MANE Plus Clinical	NP_060360.3:p.Gly3829Glu
NM_152564.5:c.11411G>A MANE Select	NP_689777.3:p.Gly3804Glu