Canonical Allele Identifier: CA4824142

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 2714863
• ClinVar RCV Id: RCV003499120
• dbSNP Id: rs764859638
• ExAC: 8:100778985 T / G
• gnomAD v2: 8-100778985-T-G
• gnomAD v4: 8-99766757-T-G
• MyVariant Identifiers: chr8:g.100778985T>G (hg19) ; chr8:g.99766757T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99766757T>G , CM000670.2:g.99766757T>G	GRCh38
NC_000008.10:g.100778985T>G , CM000670.1:g.100778985T>G	GRCh37
NC_000008.9:g.100848161T>G	NCBI36
NG_007098.2:g.758492T>G , LRG_351:g.758492T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7126-17T>G	ENSP00000507923.1:n.7126-17T>G
ENST00000682358.1:n.7196-17T>G
ENST00000683334.1:c.*2808-17T>G	ENSP00000507369.1:n.*2808-17T>G
ENST00000357162.7:c.7051-17T>G MANE Select	ENSP00000349685.2:n.7051-17T>G
ENST00000358544.7:c.7126-17T>G MANE Plus Clinical	ENSP00000351346.2:n.7126-17T>G
ENST00000357162.6:c.7051-17T>G	ENSP00000349685.2:n.7051-17T>G
ENST00000358544.6:c.7126-17T>G	ENSP00000351346.2:n.7126-17T>G
ENST00000518569.1:n.181-17T>G
NM_017890.4:c.7126-17T>G , LRG_351t1:c.7126-17T>G	NP_060360.3:n.7126-17T>G
NM_152564.4:c.7051-17T>G , LRG_351t2:c.7051-17T>G	NP_689777.3:n.7051-17T>G
XM_005250800.2:c.7126-17T>G	XP_005250857.1:n.7126-17T>G
XM_005250801.3:c.7126-17T>G	XP_005250858.1:n.7126-17T>G
XM_011516848.1:c.7123-17T>G	XP_011515150.1:n.7123-17T>G
XM_011516849.1:c.7048-17T>G	XP_011515151.1:n.7048-17T>G
XM_011516850.1:c.6748-17T>G	XP_011515152.1:n.6748-17T>G
XM_011516851.1:c.4012-17T>G	XP_011515153.1:n.4012-17T>G
XM_011516852.1:c.4012-17T>G	XP_011515154.1:n.4012-17T>G
XM_011516853.1:c.7126-17T>G	XP_011515155.1:n.7126-17T>G
XM_011516854.1:c.2905-17T>G	XP_011515156.1:n.2905-17T>G
XR_928446.1:n.2065+3931A>C
XM_005250800.3:c.7126-17T>G	XP_005250857.1:n.7126-17T>G
XM_005250801.5:c.7126-17T>G	XP_005250858.1:n.7126-17T>G
XM_011516848.2:c.7123-17T>G	XP_011515150.1:n.7123-17T>G
XM_011516849.2:c.7048-17T>G	XP_011515151.1:n.7048-17T>G
XM_011516850.2:c.6748-17T>G	XP_011515152.1:n.6748-17T>G
XM_011516851.2:c.4012-17T>G	XP_011515153.1:n.4012-17T>G
XM_011516852.2:c.4012-17T>G	XP_011515154.1:n.4012-17T>G
XM_011516853.2:c.7126-17T>G	XP_011515155.1:n.7126-17T>G
XM_011516854.2:c.2905-17T>G	XP_011515156.1:n.2905-17T>G
XM_017013109.1:c.6931-17T>G	XP_016868598.1:n.6931-17T>G
XM_017013111.1:c.4012-17T>G	XP_016868600.1:n.4012-17T>G
XM_017013112.1:c.2683-17T>G	XP_016868601.1:n.2683-17T>G
XM_024447074.1:c.5911-17T>G	XP_024302842.1:n.5911-17T>G
NM_017890.5:c.7126-17T>G MANE Plus Clinical	NP_060360.3:n.7126-17T>G
NM_152564.5:c.7051-17T>G MANE Select	NP_689777.3:n.7051-17T>G