Canonical Allele Identifier: CA371776409

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1005055
• ClinVar RCV Id: RCV001301859
• dbSNP Id: rs1462824433
• gnomAD v2: 8-100831737-A-G
• gnomAD v3: 8-99819509-A-G
• gnomAD v4: 8-99819509-A-G
• MyVariant Identifiers: chr8:g.100831737A>G (hg19) ; chr8:g.99819509A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99819509A>G , CM000670.2:g.99819509A>G	GRCh38
NC_000008.10:g.100831737A>G , CM000670.1:g.100831737A>G	GRCh37
NC_000008.9:g.100900913A>G	NCBI36
NG_007098.2:g.811244A>G , LRG_351:g.811244A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8794A>G	ENSP00000507923.1:p.Ile2932Val
ENST00000682358.1:n.8864A>G
ENST00000683334.1:c.*4476A>G	ENSP00000507369.1:n.*4476A>G
ENST00000357162.7:c.8719A>G MANE Select	ENSP00000349685.2:p.Ile2907Val
ENST00000358544.7:c.8794A>G MANE Plus Clinical	ENSP00000351346.2:p.Ile2932Val
ENST00000357162.6:c.8719A>G	ENSP00000349685.2:p.Ile2907Val
ENST00000358544.6:c.8794A>G	ENSP00000351346.2:p.Ile2932Val
NM_017890.4:c.8794A>G , LRG_351t1:c.8794A>G	NP_060360.3:p.Ile2932Val
NM_152564.4:c.8719A>G , LRG_351t2:c.8719A>G	NP_689777.3:p.Ile2907Val
XM_005250800.2:c.8794A>G	XP_005250857.1:p.Ile2932Val
XM_005250801.3:c.8794A>G	XP_005250858.1:p.Ile2932Val
XM_011516848.1:c.8791A>G	XP_011515150.1:p.Ile2931Val
XM_011516849.1:c.8716A>G	XP_011515151.1:p.Ile2906Val
XM_011516850.1:c.8416A>G	XP_011515152.1:p.Ile2806Val
XM_011516851.1:c.5680A>G	XP_011515153.1:p.Ile1894Val
XM_011516852.1:c.5680A>G	XP_011515154.1:p.Ile1894Val
XM_011516854.1:c.4573A>G	XP_011515156.1:p.Ile1525Val
XM_005250800.3:c.8794A>G	XP_005250857.1:p.Ile2932Val
XM_005250801.5:c.8794A>G	XP_005250858.1:p.Ile2932Val
XM_011516848.2:c.8791A>G	XP_011515150.1:p.Ile2931Val
XM_011516849.2:c.8716A>G	XP_011515151.1:p.Ile2906Val
XM_011516850.2:c.8416A>G	XP_011515152.1:p.Ile2806Val
XM_011516851.2:c.5680A>G	XP_011515153.1:p.Ile1894Val
XM_011516852.2:c.5680A>G	XP_011515154.1:p.Ile1894Val
XM_011516854.2:c.4573A>G	XP_011515156.1:p.Ile1525Val
XM_017013109.1:c.8599A>G	XP_016868598.1:p.Ile2867Val
XM_017013111.1:c.5680A>G	XP_016868600.1:p.Ile1894Val
XM_017013112.1:c.4351A>G	XP_016868601.1:p.Ile1451Val
XM_024447074.1:c.7579A>G	XP_024302842.1:p.Ile2527Val
NM_017890.5:c.8794A>G MANE Plus Clinical	NP_060360.3:p.Ile2932Val
NM_152564.5:c.8719A>G MANE Select	NP_689777.3:p.Ile2907Val