Canonical Allele Identifier: CA462448912

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 2749845
• ClinVar RCV Id: RCV003498300
• dbSNP Id: rs2130621281
• MyVariant Identifiers: chr8:g.100779037G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99766809G>A , CM000670.2:g.99766809G>A	GRCh38
NC_000008.10:g.100779037G>A , CM000670.1:g.100779037G>A	GRCh37
NC_000008.9:g.100848213G>A	NCBI36
NG_007098.2:g.758544G>A , LRG_351:g.758544G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7161G>A	ENSP00000507923.1:p.Gln2387=
ENST00000682358.1:n.7231G>A
ENST00000683334.1:c.*2843G>A	ENSP00000507369.1:n.*2843G>A
ENST00000357162.7:c.7086G>A MANE Select	ENSP00000349685.2:p.Gln2362=
ENST00000358544.7:c.7161G>A MANE Plus Clinical	ENSP00000351346.2:p.Gln2387=
ENST00000357162.6:c.7086G>A	ENSP00000349685.2:p.Gln2362=
ENST00000358544.6:c.7161G>A	ENSP00000351346.2:p.Gln2387=
ENST00000518569.1:n.216G>A
NM_017890.4:c.7161G>A , LRG_351t1:c.7161G>A	NP_060360.3:p.Gln2387=
NM_152564.4:c.7086G>A , LRG_351t2:c.7086G>A	NP_689777.3:p.Gln2362=
XM_005250800.2:c.7161G>A	XP_005250857.1:p.Gln2387=
XM_005250801.3:c.7161G>A	XP_005250858.1:p.Gln2387=
XM_011516848.1:c.7158G>A	XP_011515150.1:p.Gln2386=
XM_011516849.1:c.7083G>A	XP_011515151.1:p.Gln2361=
XM_011516850.1:c.6783G>A	XP_011515152.1:p.Gln2261=
XM_011516851.1:c.4047G>A	XP_011515153.1:p.Gln1349=
XM_011516852.1:c.4047G>A	XP_011515154.1:p.Gln1349=
XM_011516853.1:c.7161G>A	XP_011515155.1:p.Gln2387=
XM_011516854.1:c.2940G>A	XP_011515156.1:p.Gln980=
XR_928446.1:n.2065+3879C>T
XM_005250800.3:c.7161G>A	XP_005250857.1:p.Gln2387=
XM_005250801.5:c.7161G>A	XP_005250858.1:p.Gln2387=
XM_011516848.2:c.7158G>A	XP_011515150.1:p.Gln2386=
XM_011516849.2:c.7083G>A	XP_011515151.1:p.Gln2361=
XM_011516850.2:c.6783G>A	XP_011515152.1:p.Gln2261=
XM_011516851.2:c.4047G>A	XP_011515153.1:p.Gln1349=
XM_011516852.2:c.4047G>A	XP_011515154.1:p.Gln1349=
XM_011516853.2:c.7161G>A	XP_011515155.1:p.Gln2387=
XM_011516854.2:c.2940G>A	XP_011515156.1:p.Gln980=
XM_017013109.1:c.6966G>A	XP_016868598.1:p.Gln2322=
XM_017013111.1:c.4047G>A	XP_016868600.1:p.Gln1349=
XM_017013112.1:c.2718G>A	XP_016868601.1:p.Gln906=
XM_024447074.1:c.5946G>A	XP_024302842.1:p.Gln1982=
NM_017890.5:c.7161G>A MANE Plus Clinical	NP_060360.3:p.Gln2387=
NM_152564.5:c.7086G>A MANE Select	NP_689777.3:p.Gln2362=