Canonical Allele Identifier: CA4824095

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 969417
• ClinVar RCV Id: RCV001244764
• dbSNP Id: rs748374112
• ExAC: 8:100732748 G / A
• gnomAD v2: 8-100732748-G-A
• gnomAD v3: 8-99720520-G-A
• gnomAD v4: 8-99720520-G-A
• MyVariant Identifiers: chr8:g.100732748G>A (hg19) ; chr8:g.99720520G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99720520G>A , CM000670.2:g.99720520G>A	GRCh38
NC_000008.10:g.100732748G>A , CM000670.1:g.100732748G>A	GRCh37
NC_000008.9:g.100801924G>A	NCBI36
NG_007098.2:g.712255G>A , LRG_351:g.712255G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.6908G>A	ENSP00000507923.1:p.Arg2303Gln
ENST00000682358.1:n.6978G>A
ENST00000683334.1:c.*2590G>A	ENSP00000507369.1:n.*2590G>A
ENST00000357162.7:c.6833G>A MANE Select	ENSP00000349685.2:p.Arg2278Gln
ENST00000358544.7:c.6908G>A MANE Plus Clinical	ENSP00000351346.2:p.Arg2303Gln
ENST00000357162.6:c.6833G>A	ENSP00000349685.2:p.Arg2278Gln
ENST00000358544.6:c.6908G>A	ENSP00000351346.2:p.Arg2303Gln
NM_017890.4:c.6908G>A , LRG_351t1:c.6908G>A	NP_060360.3:p.Arg2303Gln
NM_152564.4:c.6833G>A , LRG_351t2:c.6833G>A	NP_689777.3:p.Arg2278Gln
XM_005250800.2:c.6908G>A	XP_005250857.1:p.Arg2303Gln
XM_005250801.3:c.6908G>A	XP_005250858.1:p.Arg2303Gln
XM_011516848.1:c.6905G>A	XP_011515150.1:p.Arg2302Gln
XM_011516849.1:c.6830G>A	XP_011515151.1:p.Arg2277Gln
XM_011516850.1:c.6530G>A	XP_011515152.1:p.Arg2177Gln
XM_011516851.1:c.3794G>A	XP_011515153.1:p.Arg1265Gln
XM_011516852.1:c.3794G>A	XP_011515154.1:p.Arg1265Gln
XM_011516853.1:c.6908G>A	XP_011515155.1:p.Arg2303Gln
XM_011516854.1:c.2687G>A	XP_011515156.1:p.Arg896Gln
XR_928446.1:n.2066-1307C>T
XM_005250800.3:c.6908G>A	XP_005250857.1:p.Arg2303Gln
XM_005250801.5:c.6908G>A	XP_005250858.1:p.Arg2303Gln
XM_011516848.2:c.6905G>A	XP_011515150.1:p.Arg2302Gln
XM_011516849.2:c.6830G>A	XP_011515151.1:p.Arg2277Gln
XM_011516850.2:c.6530G>A	XP_011515152.1:p.Arg2177Gln
XM_011516851.2:c.3794G>A	XP_011515153.1:p.Arg1265Gln
XM_011516852.2:c.3794G>A	XP_011515154.1:p.Arg1265Gln
XM_011516853.2:c.6908G>A	XP_011515155.1:p.Arg2303Gln
XM_011516854.2:c.2687G>A	XP_011515156.1:p.Arg896Gln
XM_017013109.1:c.6713G>A	XP_016868598.1:p.Arg2238Gln
XM_017013111.1:c.3794G>A	XP_016868600.1:p.Arg1265Gln
XM_017013112.1:c.2465G>A	XP_016868601.1:p.Arg822Gln
XM_024447074.1:c.5693G>A	XP_024302842.1:p.Arg1898Gln
NM_017890.5:c.6908G>A MANE Plus Clinical	NP_060360.3:p.Arg2303Gln
NM_152564.5:c.6833G>A MANE Select	NP_689777.3:p.Arg2278Gln