Canonical Allele Identifier: CA4824824

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 966343
• ClinVar RCV Id: RCV001240996
• dbSNP Id: rs558911841
• ExAC: 8:100847965 A / G
• gnomAD v2: 8-100847965-A-G
• gnomAD v3: 8-99835737-A-G
• gnomAD v4: 8-99835737-A-G
• MyVariant Identifiers: chr8:g.100847965A>G (hg19) ; chr8:g.99835737A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835737A>G , CM000670.2:g.99835737A>G	GRCh38
NC_000008.10:g.100847965A>G , CM000670.1:g.100847965A>G	GRCh37
NC_000008.9:g.100917141A>G	NCBI36
NG_007098.2:g.827472A>G , LRG_351:g.827472A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.10016A>G	ENSP00000507923.1:p.Gln3339Arg
ENST00000682358.1:n.10086A>G
ENST00000683334.1:c.*5698A>G	ENSP00000507369.1:n.*5698A>G
ENST00000357162.7:c.9941A>G MANE Select	ENSP00000349685.2:p.Gln3314Arg
ENST00000358544.7:c.10016A>G MANE Plus Clinical	ENSP00000351346.2:p.Gln3339Arg
ENST00000357162.6:c.9941A>G	ENSP00000349685.2:p.Gln3314Arg
ENST00000358544.6:c.10016A>G	ENSP00000351346.2:p.Gln3339Arg
NM_017890.4:c.10016A>G , LRG_351t1:c.10016A>G	NP_060360.3:p.Gln3339Arg
NM_152564.4:c.9941A>G , LRG_351t2:c.9941A>G	NP_689777.3:p.Gln3314Arg
XM_005250800.2:c.10016A>G	XP_005250857.1:p.Gln3339Arg
XM_005250801.3:c.10016A>G	XP_005250858.1:p.Gln3339Arg
XM_011516848.1:c.10013A>G	XP_011515150.1:p.Gln3338Arg
XM_011516849.1:c.9938A>G	XP_011515151.1:p.Gln3313Arg
XM_011516850.1:c.9638A>G	XP_011515152.1:p.Gln3213Arg
XM_011516851.1:c.6902A>G	XP_011515153.1:p.Gln2301Arg
XM_011516852.1:c.6902A>G	XP_011515154.1:p.Gln2301Arg
XM_011516854.1:c.5795A>G	XP_011515156.1:p.Gln1932Arg
XM_005250800.3:c.10016A>G	XP_005250857.1:p.Gln3339Arg
XM_005250801.5:c.10016A>G	XP_005250858.1:p.Gln3339Arg
XM_011516848.2:c.10013A>G	XP_011515150.1:p.Gln3338Arg
XM_011516849.2:c.9938A>G	XP_011515151.1:p.Gln3313Arg
XM_011516850.2:c.9638A>G	XP_011515152.1:p.Gln3213Arg
XM_011516851.2:c.6902A>G	XP_011515153.1:p.Gln2301Arg
XM_011516852.2:c.6902A>G	XP_011515154.1:p.Gln2301Arg
XM_011516854.2:c.5795A>G	XP_011515156.1:p.Gln1932Arg
XM_017013109.1:c.9821A>G	XP_016868598.1:p.Gln3274Arg
XM_017013111.1:c.6902A>G	XP_016868600.1:p.Gln2301Arg
XM_017013112.1:c.5573A>G	XP_016868601.1:p.Gln1858Arg
XM_024447074.1:c.8801A>G	XP_024302842.1:p.Gln2934Arg
NM_017890.5:c.10016A>G MANE Plus Clinical	NP_060360.3:p.Gln3339Arg
NM_152564.5:c.9941A>G MANE Select	NP_689777.3:p.Gln3314Arg