Canonical Allele Identifier: CA462339480

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1110441
• ClinVar RCV Id: RCV001436645
• dbSNP Id: rs1364307723
• gnomAD v3: 8-99819481-G-A
• gnomAD v4: 8-99819481-G-A
• MyVariant Identifiers: chr8:g.100831709G>A (hg19) ; chr8:g.99819481G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99819481G>A , CM000670.2:g.99819481G>A	GRCh38
NC_000008.10:g.100831709G>A , CM000670.1:g.100831709G>A	GRCh37
NC_000008.9:g.100900885G>A	NCBI36
NG_007098.2:g.811216G>A , LRG_351:g.811216G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8766G>A	ENSP00000507923.1:p.Lys2922=
ENST00000682358.1:n.8836G>A
ENST00000683334.1:c.*4448G>A	ENSP00000507369.1:n.*4448G>A
ENST00000357162.7:c.8691G>A MANE Select	ENSP00000349685.2:p.Lys2897=
ENST00000358544.7:c.8766G>A MANE Plus Clinical	ENSP00000351346.2:p.Lys2922=
ENST00000357162.6:c.8691G>A	ENSP00000349685.2:p.Lys2897=
ENST00000358544.6:c.8766G>A	ENSP00000351346.2:p.Lys2922=
NM_017890.4:c.8766G>A , LRG_351t1:c.8766G>A	NP_060360.3:p.Lys2922=
NM_152564.4:c.8691G>A , LRG_351t2:c.8691G>A	NP_689777.3:p.Lys2897=
XM_005250800.2:c.8766G>A	XP_005250857.1:p.Lys2922=
XM_005250801.3:c.8766G>A	XP_005250858.1:p.Lys2922=
XM_011516848.1:c.8763G>A	XP_011515150.1:p.Lys2921=
XM_011516849.1:c.8688G>A	XP_011515151.1:p.Lys2896=
XM_011516850.1:c.8388G>A	XP_011515152.1:p.Lys2796=
XM_011516851.1:c.5652G>A	XP_011515153.1:p.Lys1884=
XM_011516852.1:c.5652G>A	XP_011515154.1:p.Lys1884=
XM_011516854.1:c.4545G>A	XP_011515156.1:p.Lys1515=
XM_005250800.3:c.8766G>A	XP_005250857.1:p.Lys2922=
XM_005250801.5:c.8766G>A	XP_005250858.1:p.Lys2922=
XM_011516848.2:c.8763G>A	XP_011515150.1:p.Lys2921=
XM_011516849.2:c.8688G>A	XP_011515151.1:p.Lys2896=
XM_011516850.2:c.8388G>A	XP_011515152.1:p.Lys2796=
XM_011516851.2:c.5652G>A	XP_011515153.1:p.Lys1884=
XM_011516852.2:c.5652G>A	XP_011515154.1:p.Lys1884=
XM_011516854.2:c.4545G>A	XP_011515156.1:p.Lys1515=
XM_017013109.1:c.8571G>A	XP_016868598.1:p.Lys2857=
XM_017013111.1:c.5652G>A	XP_016868600.1:p.Lys1884=
XM_017013112.1:c.4323G>A	XP_016868601.1:p.Lys1441=
XM_024447074.1:c.7551G>A	XP_024302842.1:p.Lys2517=
NM_017890.5:c.8766G>A MANE Plus Clinical	NP_060360.3:p.Lys2922=
NM_152564.5:c.8691G>A MANE Select	NP_689777.3:p.Lys2897=