Canonical Allele Identifier: CA4823128

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 861088
• ClinVar RCV Id: RCV001067527
• dbSNP Id: rs758840412
• ExAC: 8:100403838 T / A
• gnomAD v2: 8-100403838-T-A
• gnomAD v4: 8-99391610-T-A
• MyVariant Identifiers: chr8:g.100403838T>A (hg19) ; chr8:g.99391610T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99391610T>A , CM000670.2:g.99391610T>A	GRCh38
NC_000008.10:g.100403838T>A , CM000670.1:g.100403838T>A	GRCh37
NC_000008.9:g.100473014T>A	NCBI36
NG_007098.2:g.383345T>A , LRG_351:g.383345T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355155.6:c.2985T>A	ENSP00000347281.2:p.Asp995Glu
ENST00000682145.1:n.2865T>A
ENST00000682153.1:c.2988T>A	ENSP00000507923.1:p.Asp996Glu
ENST00000682234.1:c.2988T>A	ENSP00000508225.1:p.Asp996Glu
ENST00000682358.1:n.3058T>A
ENST00000683334.1:c.2988T>A	ENSP00000507369.1:p.Asp996Glu
ENST00000683486.1:n.3054T>A
ENST00000683619.1:n.3160T>A
ENST00000683869.1:n.3069T>A
ENST00000357162.7:c.2988T>A MANE Select	ENSP00000349685.2:p.Asp996Glu
ENST00000358544.7:c.2988T>A MANE Plus Clinical	ENSP00000351346.2:p.Asp996Glu
ENST00000357162.6:c.2988T>A	ENSP00000349685.2:p.Asp996Glu
ENST00000358544.6:c.2988T>A	ENSP00000351346.2:p.Asp996Glu
ENST00000496144.5:c.2988T>A	ENSP00000430900.1:p.Asp996Glu
ENST00000521037.1:n.159T>A
ENST00000522802.5:n.210T>A
NM_017890.4:c.2988T>A , LRG_351t1:c.2988T>A	NP_060360.3:p.Asp996Glu
NM_152564.4:c.2988T>A , LRG_351t2:c.2988T>A	NP_689777.3:p.Asp996Glu
XM_005250800.2:c.2988T>A	XP_005250857.1:p.Asp996Glu
XM_005250801.3:c.2988T>A	XP_005250858.1:p.Asp996Glu
XM_006716510.2:c.2988T>A	XP_006716573.1:p.Asp996Glu
XM_011516848.1:c.2985T>A	XP_011515150.1:p.Asp995Glu
XM_011516849.1:c.2988T>A	XP_011515151.1:p.Asp996Glu
XM_011516850.1:c.2610T>A	XP_011515152.1:p.Asp870Glu
XM_011516853.1:c.2988T>A	XP_011515155.1:p.Asp996Glu
XM_011516855.1:c.2988T>A	XP_011515157.1:p.Asp996Glu
XM_011516856.1:c.2988T>A	XP_011515158.1:p.Asp996Glu
XM_011516857.1:c.2988T>A	XP_011515159.1:p.Asp996Glu
XM_011516858.1:c.2988T>A	XP_011515160.1:p.Asp996Glu
XM_011516859.1:c.2988T>A	XP_011515161.1:p.Asp996Glu
XM_011516860.1:c.2988T>A	XP_011515162.1:p.Asp996Glu
XM_011516861.1:c.2988T>A	XP_011515163.1:p.Asp996Glu
XR_928301.1:n.3091T>A
XR_928302.1:n.3091T>A
XR_928303.1:n.3091T>A
XR_928304.1:n.3091T>A
XM_005250800.3:c.2988T>A	XP_005250857.1:p.Asp996Glu
XM_005250801.5:c.2988T>A	XP_005250858.1:p.Asp996Glu
XM_006716510.3:c.2988T>A	XP_006716573.1:p.Asp996Glu
XM_011516848.2:c.2985T>A	XP_011515150.1:p.Asp995Glu
XM_011516849.2:c.2988T>A	XP_011515151.1:p.Asp996Glu
XM_011516850.2:c.2610T>A	XP_011515152.1:p.Asp870Glu
XM_011516853.2:c.2988T>A	XP_011515155.1:p.Asp996Glu
XM_011516859.2:c.2988T>A	XP_011515161.1:p.Asp996Glu
XM_017013109.1:c.2793T>A	XP_016868598.1:p.Asp931Glu
XM_024447074.1:c.1773T>A	XP_024302842.1:p.Asp591Glu
XM_024447075.1:c.2988T>A	XP_024302843.1:p.Asp996Glu
XR_001745481.1:n.3091T>A
XR_001745482.2:n.3091T>A
XR_001745484.2:n.3091T>A
XR_002956601.1:n.3088T>A
XR_002956602.1:n.3091T>A
XR_928302.2:n.3091T>A
NM_017890.5:c.2988T>A MANE Plus Clinical	NP_060360.3:p.Asp996Glu
NM_152564.5:c.2988T>A MANE Select	NP_689777.3:p.Asp996Glu