Canonical Allele Identifier: CA462449188

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 2192238
• ClinVar RCV Id: RCV002621008
• gnomAD v4: 8-99776853-T-C
• MyVariant Identifiers: chr8:g.100789081T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776853T>C , CM000670.2:g.99776853T>C	GRCh38
NC_000008.10:g.100789081T>C , CM000670.1:g.100789081T>C	GRCh37
NC_000008.9:g.100858257T>C	NCBI36
NG_007098.2:g.768588T>C , LRG_351:g.768588T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7401T>C	ENSP00000507923.1:p.Val2467=
ENST00000682358.1:n.7471T>C
ENST00000683334.1:c.*3083T>C	ENSP00000507369.1:n.*3083T>C
ENST00000357162.7:c.7326T>C MANE Select	ENSP00000349685.2:p.Val2442=
ENST00000358544.7:c.7401T>C MANE Plus Clinical	ENSP00000351346.2:p.Val2467=
ENST00000357162.6:c.7326T>C	ENSP00000349685.2:p.Val2442=
ENST00000358544.6:c.7401T>C	ENSP00000351346.2:p.Val2467=
ENST00000518569.1:n.378-1829T>C
NM_017890.4:c.7401T>C , LRG_351t1:c.7401T>C	NP_060360.3:p.Val2467=
NM_152564.4:c.7326T>C , LRG_351t2:c.7326T>C	NP_689777.3:p.Val2442=
XM_005250800.2:c.7401T>C	XP_005250857.1:p.Val2467=
XM_005250801.3:c.7401T>C	XP_005250858.1:p.Val2467=
XM_011516848.1:c.7398T>C	XP_011515150.1:p.Val2466=
XM_011516849.1:c.7323T>C	XP_011515151.1:p.Val2441=
XM_011516850.1:c.7023T>C	XP_011515152.1:p.Val2341=
XM_011516851.1:c.4287T>C	XP_011515153.1:p.Val1429=
XM_011516852.1:c.4287T>C	XP_011515154.1:p.Val1429=
XM_011516853.1:c.7401T>C	XP_011515155.1:p.Val2467=
XM_011516854.1:c.3180T>C	XP_011515156.1:p.Val1060=
XR_928446.1:n.1830+5625A>G
XM_005250800.3:c.7401T>C	XP_005250857.1:p.Val2467=
XM_005250801.5:c.7401T>C	XP_005250858.1:p.Val2467=
XM_011516848.2:c.7398T>C	XP_011515150.1:p.Val2466=
XM_011516849.2:c.7323T>C	XP_011515151.1:p.Val2441=
XM_011516850.2:c.7023T>C	XP_011515152.1:p.Val2341=
XM_011516851.2:c.4287T>C	XP_011515153.1:p.Val1429=
XM_011516852.2:c.4287T>C	XP_011515154.1:p.Val1429=
XM_011516853.2:c.7401T>C	XP_011515155.1:p.Val2467=
XM_011516854.2:c.3180T>C	XP_011515156.1:p.Val1060=
XM_017013109.1:c.7206T>C	XP_016868598.1:p.Val2402=
XM_017013111.1:c.4287T>C	XP_016868600.1:p.Val1429=
XM_017013112.1:c.2958T>C	XP_016868601.1:p.Val986=
XM_024447074.1:c.6186T>C	XP_024302842.1:p.Val2062=
NM_017890.5:c.7401T>C MANE Plus Clinical	NP_060360.3:p.Val2467=
NM_152564.5:c.7326T>C MANE Select	NP_689777.3:p.Val2442=