Canonical Allele Identifier: CA462449158

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 2693580
• ClinVar RCV Id: RCV003498031
• MyVariant Identifiers: chr8:g.100789048G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776820G>A , CM000670.2:g.99776820G>A	GRCh38
NC_000008.10:g.100789048G>A , CM000670.1:g.100789048G>A	GRCh37
NC_000008.9:g.100858224G>A	NCBI36
NG_007098.2:g.768555G>A , LRG_351:g.768555G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7368G>A	ENSP00000507923.1:p.Val2456=
ENST00000682358.1:n.7438G>A
ENST00000683334.1:c.*3050G>A	ENSP00000507369.1:n.*3050G>A
ENST00000357162.7:c.7293G>A MANE Select	ENSP00000349685.2:p.Val2431=
ENST00000358544.7:c.7368G>A MANE Plus Clinical	ENSP00000351346.2:p.Val2456=
ENST00000357162.6:c.7293G>A	ENSP00000349685.2:p.Val2431=
ENST00000358544.6:c.7368G>A	ENSP00000351346.2:p.Val2456=
ENST00000518569.1:n.378-1862G>A
NM_017890.4:c.7368G>A , LRG_351t1:c.7368G>A	NP_060360.3:p.Val2456=
NM_152564.4:c.7293G>A , LRG_351t2:c.7293G>A	NP_689777.3:p.Val2431=
XM_005250800.2:c.7368G>A	XP_005250857.1:p.Val2456=
XM_005250801.3:c.7368G>A	XP_005250858.1:p.Val2456=
XM_011516848.1:c.7365G>A	XP_011515150.1:p.Val2455=
XM_011516849.1:c.7290G>A	XP_011515151.1:p.Val2430=
XM_011516850.1:c.6990G>A	XP_011515152.1:p.Val2330=
XM_011516851.1:c.4254G>A	XP_011515153.1:p.Val1418=
XM_011516852.1:c.4254G>A	XP_011515154.1:p.Val1418=
XM_011516853.1:c.7368G>A	XP_011515155.1:p.Val2456=
XM_011516854.1:c.3147G>A	XP_011515156.1:p.Val1049=
XR_928446.1:n.1830+5658C>T
XM_005250800.3:c.7368G>A	XP_005250857.1:p.Val2456=
XM_005250801.5:c.7368G>A	XP_005250858.1:p.Val2456=
XM_011516848.2:c.7365G>A	XP_011515150.1:p.Val2455=
XM_011516849.2:c.7290G>A	XP_011515151.1:p.Val2430=
XM_011516850.2:c.6990G>A	XP_011515152.1:p.Val2330=
XM_011516851.2:c.4254G>A	XP_011515153.1:p.Val1418=
XM_011516852.2:c.4254G>A	XP_011515154.1:p.Val1418=
XM_011516853.2:c.7368G>A	XP_011515155.1:p.Val2456=
XM_011516854.2:c.3147G>A	XP_011515156.1:p.Val1049=
XM_017013109.1:c.7173G>A	XP_016868598.1:p.Val2391=
XM_017013111.1:c.4254G>A	XP_016868600.1:p.Val1418=
XM_017013112.1:c.2925G>A	XP_016868601.1:p.Val975=
XM_024447074.1:c.6153G>A	XP_024302842.1:p.Val2051=
NM_017890.5:c.7368G>A MANE Plus Clinical	NP_060360.3:p.Val2456=
NM_152564.5:c.7293G>A MANE Select	NP_689777.3:p.Val2431=