Canonical Allele Identifier: CA462340570

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 2091088
• ClinVar RCV Id: RCV002991530
• gnomAD v4: 8-99835212-A-G
• MyVariant Identifiers: chr8:g.100847440A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835212A>G , CM000670.2:g.99835212A>G	GRCh38
NC_000008.10:g.100847440A>G , CM000670.1:g.100847440A>G	GRCh37
NC_000008.9:g.100916616A>G	NCBI36
NG_007098.2:g.826947A>G , LRG_351:g.826947A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.9705A>G	ENSP00000507923.1:p.Thr3235=
ENST00000682358.1:n.9775A>G
ENST00000683334.1:c.*5387A>G	ENSP00000507369.1:n.*5387A>G
ENST00000357162.7:c.9630A>G MANE Select	ENSP00000349685.2:p.Thr3210=
ENST00000358544.7:c.9705A>G MANE Plus Clinical	ENSP00000351346.2:p.Thr3235=
ENST00000357162.6:c.9630A>G	ENSP00000349685.2:p.Thr3210=
ENST00000358544.6:c.9705A>G	ENSP00000351346.2:p.Thr3235=
NM_017890.4:c.9705A>G , LRG_351t1:c.9705A>G	NP_060360.3:p.Thr3235=
NM_152564.4:c.9630A>G , LRG_351t2:c.9630A>G	NP_689777.3:p.Thr3210=
XM_005250800.2:c.9705A>G	XP_005250857.1:p.Thr3235=
XM_005250801.3:c.9705A>G	XP_005250858.1:p.Thr3235=
XM_011516848.1:c.9702A>G	XP_011515150.1:p.Thr3234=
XM_011516849.1:c.9627A>G	XP_011515151.1:p.Thr3209=
XM_011516850.1:c.9327A>G	XP_011515152.1:p.Thr3109=
XM_011516851.1:c.6591A>G	XP_011515153.1:p.Thr2197=
XM_011516852.1:c.6591A>G	XP_011515154.1:p.Thr2197=
XM_011516854.1:c.5484A>G	XP_011515156.1:p.Thr1828=
XM_005250800.3:c.9705A>G	XP_005250857.1:p.Thr3235=
XM_005250801.5:c.9705A>G	XP_005250858.1:p.Thr3235=
XM_011516848.2:c.9702A>G	XP_011515150.1:p.Thr3234=
XM_011516849.2:c.9627A>G	XP_011515151.1:p.Thr3209=
XM_011516850.2:c.9327A>G	XP_011515152.1:p.Thr3109=
XM_011516851.2:c.6591A>G	XP_011515153.1:p.Thr2197=
XM_011516852.2:c.6591A>G	XP_011515154.1:p.Thr2197=
XM_011516854.2:c.5484A>G	XP_011515156.1:p.Thr1828=
XM_017013109.1:c.9510A>G	XP_016868598.1:p.Thr3170=
XM_017013111.1:c.6591A>G	XP_016868600.1:p.Thr2197=
XM_017013112.1:c.5262A>G	XP_016868601.1:p.Thr1754=
XM_024447074.1:c.8490A>G	XP_024302842.1:p.Thr2830=
NM_017890.5:c.9705A>G MANE Plus Clinical	NP_060360.3:p.Thr3235=
NM_152564.5:c.9630A>G MANE Select	NP_689777.3:p.Thr3210=