Canonical Allele Identifier: CA4822287

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1025230
• ClinVar RCV Id: RCV001325520 ; RCV002395719
• dbSNP Id: rs772550162
• ExAC: 8:100026166 A / G
• gnomAD v2: 8-100026166-A-G
• gnomAD v3: 8-99013938-A-G
• gnomAD v4: 8-99013938-A-G
• MyVariant Identifiers: chr8:g.100026166A>G (hg19) ; chr8:g.99013938A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99013938A>G , CM000670.2:g.99013938A>G	GRCh38
NC_000008.10:g.100026166A>G , CM000670.1:g.100026166A>G	GRCh37
NC_000008.9:g.100095342A>G	NCBI36
NG_007098.2:g.5673A>G , LRG_351:g.5673A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355155.6:c.147+3A>G	ENSP00000347281.2:n.147+3A>G
ENST00000682145.1:n.216+3A>G
ENST00000682153.1:c.147+3A>G	ENSP00000507923.1:n.147+3A>G
ENST00000682234.1:c.147+3A>G	ENSP00000508225.1:n.147+3A>G
ENST00000682358.1:n.217+3A>G
ENST00000682806.1:n.248+3A>G
ENST00000682853.1:n.252+3A>G
ENST00000683334.1:c.147+3A>G	ENSP00000507369.1:n.147+3A>G
ENST00000683486.1:n.213+3A>G
ENST00000683619.1:n.250+3A>G
ENST00000683869.1:n.228+3A>G
ENST00000684269.1:n.248+3A>G
ENST00000684308.1:n.213+3A>G
ENST00000357162.7:c.147+3A>G MANE Select	ENSP00000349685.2:n.147+3A>G
ENST00000358544.7:c.147+3A>G MANE Plus Clinical	ENSP00000351346.2:n.147+3A>G
ENST00000355155.5:c.147+3A>G	ENSP00000347281.1:n.147+3A>G
ENST00000357162.6:c.147+3A>G	ENSP00000349685.2:n.147+3A>G
ENST00000358544.6:c.147+3A>G	ENSP00000351346.2:n.147+3A>G
ENST00000441350.2:c.147+3A>G	ENSP00000398472.2:n.147+3A>G
ENST00000496144.5:c.147+3A>G	ENSP00000430900.1:n.147+3A>G
NM_015243.2:c.147+3A>G , LRG_351t3:c.147+3A>G	NP_056058.2:n.147+3A>G
NM_017890.4:c.147+3A>G , LRG_351t1:c.147+3A>G	NP_060360.3:n.147+3A>G
NM_152564.4:c.147+3A>G , LRG_351t2:c.147+3A>G	NP_689777.3:n.147+3A>G
NM_181661.2:c.147+3A>G , LRG_351t4:c.147+3A>G	NP_858047.2:n.147+3A>G
NR_047582.1:n.258+3A>G
XM_005250800.2:c.147+3A>G	XP_005250857.1:n.147+3A>G
XM_005250801.3:c.147+3A>G	XP_005250858.1:n.147+3A>G
XM_006716510.2:c.147+3A>G	XP_006716573.1:n.147+3A>G
XM_006716511.2:c.147+3A>G	XP_006716574.1:n.147+3A>G
XM_011516848.1:c.147+3A>G	XP_011515150.1:n.147+3A>G
XM_011516849.1:c.147+3A>G	XP_011515151.1:n.147+3A>G
XM_011516853.1:c.147+3A>G	XP_011515155.1:n.147+3A>G
XM_011516855.1:c.147+3A>G	XP_011515157.1:n.147+3A>G
XM_011516856.1:c.147+3A>G	XP_011515158.1:n.147+3A>G
XM_011516857.1:c.147+3A>G	XP_011515159.1:n.147+3A>G
XM_011516858.1:c.147+3A>G	XP_011515160.1:n.147+3A>G
XM_011516859.1:c.147+3A>G	XP_011515161.1:n.147+3A>G
XM_011516860.1:c.147+3A>G	XP_011515162.1:n.147+3A>G
XM_011516861.1:c.147+3A>G	XP_011515163.1:n.147+3A>G
XM_011516862.1:c.147+3A>G	XP_011515164.1:n.147+3A>G
XM_011516863.1:c.147+3A>G	XP_011515165.1:n.147+3A>G
XM_011516864.1:c.147+3A>G	XP_011515166.1:n.147+3A>G
XM_011516865.1:c.147+3A>G	XP_011515167.1:n.147+3A>G
XM_011516866.1:c.147+3A>G	XP_011515168.1:n.147+3A>G
XR_928301.1:n.250+3A>G
XR_928302.1:n.250+3A>G
XR_928303.1:n.250+3A>G
XR_928304.1:n.250+3A>G
XM_005250800.3:c.147+3A>G	XP_005250857.1:n.147+3A>G
XM_005250801.5:c.147+3A>G	XP_005250858.1:n.147+3A>G
XM_006716510.3:c.147+3A>G	XP_006716573.1:n.147+3A>G
XM_011516848.2:c.147+3A>G	XP_011515150.1:n.147+3A>G
XM_011516849.2:c.147+3A>G	XP_011515151.1:n.147+3A>G
XM_011516853.2:c.147+3A>G	XP_011515155.1:n.147+3A>G
XM_011516859.2:c.147+3A>G	XP_011515161.1:n.147+3A>G
XM_011516866.2:c.147+3A>G	XP_011515168.1:n.147+3A>G
XM_017013109.1:c.147+3A>G	XP_016868598.1:n.147+3A>G
XM_024447074.1:c.-1181+3A>G	XP_024302842.1:n.-1181+3A>G
XM_024447075.1:c.147+3A>G	XP_024302843.1:n.147+3A>G
XR_001745481.1:n.250+3A>G
XR_001745482.2:n.250+3A>G
XR_001745484.2:n.250+3A>G
XR_002956601.1:n.250+3A>G
XR_002956602.1:n.250+3A>G
XR_928302.2:n.250+3A>G
NM_015243.3:c.147+3A>G	NP_056058.2:n.147+3A>G
NM_017890.5:c.147+3A>G MANE Plus Clinical	NP_060360.3:n.147+3A>G
NM_152564.5:c.147+3A>G MANE Select	NP_689777.3:n.147+3A>G
NM_181661.3:c.147+3A>G	NP_858047.2:n.147+3A>G
NR_047582.2:n.250+3A>G