Canonical Allele Identifier: CA462449201

Gene: VPS13B

Linked Data

• dbSNP Id: rs1232917163
• gnomAD v3: 8-99776880-C-A
• gnomAD v4: 8-99776880-C-A
• MyVariant Identifiers: chr8:g.100789108C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776880C>A , CM000670.2:g.99776880C>A	GRCh38
NC_000008.10:g.100789108C>A , CM000670.1:g.100789108C>A	GRCh37
NC_000008.9:g.100858284C>A	NCBI36
NG_007098.2:g.768615C>A , LRG_351:g.768615C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7428C>A	ENSP00000507923.1:p.Val2476=
ENST00000682358.1:n.7498C>A
ENST00000683334.1:c.*3110C>A	ENSP00000507369.1:n.*3110C>A
ENST00000357162.7:c.7353C>A MANE Select	ENSP00000349685.2:p.Val2451=
ENST00000358544.7:c.7428C>A MANE Plus Clinical	ENSP00000351346.2:p.Val2476=
ENST00000357162.6:c.7353C>A	ENSP00000349685.2:p.Val2451=
ENST00000358544.6:c.7428C>A	ENSP00000351346.2:p.Val2476=
ENST00000518569.1:n.378-1802C>A
NM_017890.4:c.7428C>A , LRG_351t1:c.7428C>A	NP_060360.3:p.Val2476=
NM_152564.4:c.7353C>A , LRG_351t2:c.7353C>A	NP_689777.3:p.Val2451=
XM_005250800.2:c.7428C>A	XP_005250857.1:p.Val2476=
XM_005250801.3:c.7428C>A	XP_005250858.1:p.Val2476=
XM_011516848.1:c.7425C>A	XP_011515150.1:p.Val2475=
XM_011516849.1:c.7350C>A	XP_011515151.1:p.Val2450=
XM_011516850.1:c.7050C>A	XP_011515152.1:p.Val2350=
XM_011516851.1:c.4314C>A	XP_011515153.1:p.Val1438=
XM_011516852.1:c.4314C>A	XP_011515154.1:p.Val1438=
XM_011516853.1:c.7428C>A	XP_011515155.1:p.Val2476=
XM_011516854.1:c.3207C>A	XP_011515156.1:p.Val1069=
XR_928446.1:n.1830+5598G>T
XM_005250800.3:c.7428C>A	XP_005250857.1:p.Val2476=
XM_005250801.5:c.7428C>A	XP_005250858.1:p.Val2476=
XM_011516848.2:c.7425C>A	XP_011515150.1:p.Val2475=
XM_011516849.2:c.7350C>A	XP_011515151.1:p.Val2450=
XM_011516850.2:c.7050C>A	XP_011515152.1:p.Val2350=
XM_011516851.2:c.4314C>A	XP_011515153.1:p.Val1438=
XM_011516852.2:c.4314C>A	XP_011515154.1:p.Val1438=
XM_011516853.2:c.7428C>A	XP_011515155.1:p.Val2476=
XM_011516854.2:c.3207C>A	XP_011515156.1:p.Val1069=
XM_017013109.1:c.7233C>A	XP_016868598.1:p.Val2411=
XM_017013111.1:c.4314C>A	XP_016868600.1:p.Val1438=
XM_017013112.1:c.2985C>A	XP_016868601.1:p.Val995=
XM_024447074.1:c.6213C>A	XP_024302842.1:p.Val2071=
NM_017890.5:c.7428C>A MANE Plus Clinical	NP_060360.3:p.Val2476=
NM_152564.5:c.7353C>A MANE Select	NP_689777.3:p.Val2451=