Canonical Allele Identifier: CA4824859

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 262652
• ClinVar RCV Id: RCV000245200 ; RCV000624962 ; RCV001711746
• dbSNP Id: rs34513504
• ExAC: 8:100861146 G / A
• gnomAD v2: 8-100861146-G-A
• gnomAD v3: 8-99848918-G-A
• gnomAD v4: 8-99848918-G-A
• MyVariant Identifiers: chr8:g.100861146G>A (hg19) ; chr8:g.99848918G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99848918G>A , CM000670.2:g.99848918G>A	GRCh38
NC_000008.10:g.100861146G>A , CM000670.1:g.100861146G>A	GRCh37
NC_000008.9:g.100930322G>A	NCBI36
NG_007098.2:g.840653G>A , LRG_351:g.840653G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.10136+24G>A	ENSP00000507923.1:n.10136+24G>A
ENST00000682358.1:n.10206+24G>A
ENST00000683334.1:c.*5818+24G>A	ENSP00000507369.1:n.*5818+24G>A
ENST00000357162.7:c.10061+24G>A MANE Select	ENSP00000349685.2:n.10061+24G>A
ENST00000358544.7:c.10136+24G>A MANE Plus Clinical	ENSP00000351346.2:n.10136+24G>A
ENST00000357162.6:c.10061+24G>A	ENSP00000349685.2:n.10061+24G>A
ENST00000358544.6:c.10136+24G>A	ENSP00000351346.2:n.10136+24G>A
NM_017890.4:c.10136+24G>A , LRG_351t1:c.10136+24G>A	NP_060360.3:n.10136+24G>A
NM_152564.4:c.10061+24G>A , LRG_351t2:c.10061+24G>A	NP_689777.3:n.10061+24G>A
XM_005250800.2:c.10136+24G>A	XP_005250857.1:n.10136+24G>A
XM_005250801.3:c.10136+24G>A	XP_005250858.1:n.10136+24G>A
XM_011516848.1:c.10133+24G>A	XP_011515150.1:n.10133+24G>A
XM_011516849.1:c.10058+24G>A	XP_011515151.1:n.10058+24G>A
XM_011516850.1:c.9758+24G>A	XP_011515152.1:n.9758+24G>A
XM_011516851.1:c.7022+24G>A	XP_011515153.1:n.7022+24G>A
XM_011516852.1:c.7022+24G>A	XP_011515154.1:n.7022+24G>A
XM_011516854.1:c.5915+24G>A	XP_011515156.1:n.5915+24G>A
XM_005250800.3:c.10136+24G>A	XP_005250857.1:n.10136+24G>A
XM_005250801.5:c.10136+24G>A	XP_005250858.1:n.10136+24G>A
XM_011516848.2:c.10133+24G>A	XP_011515150.1:n.10133+24G>A
XM_011516849.2:c.10058+24G>A	XP_011515151.1:n.10058+24G>A
XM_011516850.2:c.9758+24G>A	XP_011515152.1:n.9758+24G>A
XM_011516851.2:c.7022+24G>A	XP_011515153.1:n.7022+24G>A
XM_011516852.2:c.7022+24G>A	XP_011515154.1:n.7022+24G>A
XM_011516854.2:c.5915+24G>A	XP_011515156.1:n.5915+24G>A
XM_017013109.1:c.9941+24G>A	XP_016868598.1:n.9941+24G>A
XM_017013111.1:c.7022+24G>A	XP_016868600.1:n.7022+24G>A
XM_017013112.1:c.5693+24G>A	XP_016868601.1:n.5693+24G>A
XM_024447074.1:c.8921+24G>A	XP_024302842.1:n.8921+24G>A
NM_017890.5:c.10136+24G>A MANE Plus Clinical	NP_060360.3:n.10136+24G>A
NM_152564.5:c.10061+24G>A MANE Select	NP_689777.3:n.10061+24G>A