Canonical Allele Identifier: CA4824442

Gene: VPS13B

Linked Data

• dbSNP Id: rs368143021
• ExAC: 8:100830703 A / G
• gnomAD v2: 8-100830703-A-G
• gnomAD v3: 8-99818475-A-G
• gnomAD v4: 8-99818475-A-G
• COSMIC: COSM1453524 ; COSM1453525
• MyVariant Identifiers: chr8:g.100830703A>G (hg19) ; chr8:g.99818475A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99818475A>G , CM000670.2:g.99818475A>G	GRCh38
NC_000008.10:g.100830703A>G , CM000670.1:g.100830703A>G	GRCh37
NC_000008.9:g.100899879A>G	NCBI36
NG_007098.2:g.810210A>G , LRG_351:g.810210A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.8461A>G	ENSP00000507923.1:p.Ile2821Val
ENST00000682358.1:n.8531A>G
ENST00000683334.1:c.*4143A>G	ENSP00000507369.1:n.*4143A>G
ENST00000357162.7:c.8386A>G MANE Select	ENSP00000349685.2:p.Ile2796Val
ENST00000358544.7:c.8461A>G MANE Plus Clinical	ENSP00000351346.2:p.Ile2821Val
ENST00000357162.6:c.8386A>G	ENSP00000349685.2:p.Ile2796Val
ENST00000358544.6:c.8461A>G	ENSP00000351346.2:p.Ile2821Val
NM_017890.4:c.8461A>G , LRG_351t1:c.8461A>G	NP_060360.3:p.Ile2821Val
NM_152564.4:c.8386A>G , LRG_351t2:c.8386A>G	NP_689777.3:p.Ile2796Val
XM_005250800.2:c.8461A>G	XP_005250857.1:p.Ile2821Val
XM_005250801.3:c.8461A>G	XP_005250858.1:p.Ile2821Val
XM_011516848.1:c.8458A>G	XP_011515150.1:p.Ile2820Val
XM_011516849.1:c.8383A>G	XP_011515151.1:p.Ile2795Val
XM_011516850.1:c.8083A>G	XP_011515152.1:p.Ile2695Val
XM_011516851.1:c.5347A>G	XP_011515153.1:p.Ile1783Val
XM_011516852.1:c.5347A>G	XP_011515154.1:p.Ile1783Val
XM_011516854.1:c.4240A>G	XP_011515156.1:p.Ile1414Val
XM_005250800.3:c.8461A>G	XP_005250857.1:p.Ile2821Val
XM_005250801.5:c.8461A>G	XP_005250858.1:p.Ile2821Val
XM_011516848.2:c.8458A>G	XP_011515150.1:p.Ile2820Val
XM_011516849.2:c.8383A>G	XP_011515151.1:p.Ile2795Val
XM_011516850.2:c.8083A>G	XP_011515152.1:p.Ile2695Val
XM_011516851.2:c.5347A>G	XP_011515153.1:p.Ile1783Val
XM_011516852.2:c.5347A>G	XP_011515154.1:p.Ile1783Val
XM_011516854.2:c.4240A>G	XP_011515156.1:p.Ile1414Val
XM_017013109.1:c.8266A>G	XP_016868598.1:p.Ile2756Val
XM_017013111.1:c.5347A>G	XP_016868600.1:p.Ile1783Val
XM_017013112.1:c.4018A>G	XP_016868601.1:p.Ile1340Val
XM_024447074.1:c.7246A>G	XP_024302842.1:p.Ile2416Val
NM_017890.5:c.8461A>G MANE Plus Clinical	NP_060360.3:p.Ile2821Val
NM_152564.5:c.8386A>G MANE Select	NP_689777.3:p.Ile2796Val