Canonical Allele Identifier: CA16041253

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 370433
• ClinVar RCV Id: RCV000410476
• dbSNP Id: rs1057516484
• MyVariant Identifiers: chr8:g.100830713G>A (hg19) ; chr8:g.99818485G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99818485G>A , CM000670.2:g.99818485G>A	GRCh38
NC_000008.10:g.100830713G>A , CM000670.1:g.100830713G>A	GRCh37
NC_000008.9:g.100899889G>A	NCBI36
NG_007098.2:g.810220G>A , LRG_351:g.810220G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.8471G>A	ENSP00000507923.1:p.Trp2824Ter
ENST00000682358.1:n.8541G>A
ENST00000683334.1:c.*4153G>A	ENSP00000507369.1:n.*4153G>A
ENST00000357162.7:c.8396G>A MANE Select	ENSP00000349685.2:p.Trp2799Ter
ENST00000358544.7:c.8471G>A MANE Plus Clinical	ENSP00000351346.2:p.Trp2824Ter
ENST00000357162.6:c.8396G>A	ENSP00000349685.2:p.Trp2799Ter
ENST00000358544.6:c.8471G>A	ENSP00000351346.2:p.Trp2824Ter
NM_017890.4:c.8471G>A , LRG_351t1:c.8471G>A	NP_060360.3:p.Trp2824Ter
NM_152564.4:c.8396G>A , LRG_351t2:c.8396G>A	NP_689777.3:p.Trp2799Ter
XM_005250800.2:c.8471G>A	XP_005250857.1:p.Trp2824Ter
XM_005250801.3:c.8471G>A	XP_005250858.1:p.Trp2824Ter
XM_011516848.1:c.8468G>A	XP_011515150.1:p.Trp2823Ter
XM_011516849.1:c.8393G>A	XP_011515151.1:p.Trp2798Ter
XM_011516850.1:c.8093G>A	XP_011515152.1:p.Trp2698Ter
XM_011516851.1:c.5357G>A	XP_011515153.1:p.Trp1786Ter
XM_011516852.1:c.5357G>A	XP_011515154.1:p.Trp1786Ter
XM_011516854.1:c.4250G>A	XP_011515156.1:p.Trp1417Ter
XM_005250800.3:c.8471G>A	XP_005250857.1:p.Trp2824Ter
XM_005250801.5:c.8471G>A	XP_005250858.1:p.Trp2824Ter
XM_011516848.2:c.8468G>A	XP_011515150.1:p.Trp2823Ter
XM_011516849.2:c.8393G>A	XP_011515151.1:p.Trp2798Ter
XM_011516850.2:c.8093G>A	XP_011515152.1:p.Trp2698Ter
XM_011516851.2:c.5357G>A	XP_011515153.1:p.Trp1786Ter
XM_011516852.2:c.5357G>A	XP_011515154.1:p.Trp1786Ter
XM_011516854.2:c.4250G>A	XP_011515156.1:p.Trp1417Ter
XM_017013109.1:c.8276G>A	XP_016868598.1:p.Trp2759Ter
XM_017013111.1:c.5357G>A	XP_016868600.1:p.Trp1786Ter
XM_017013112.1:c.4028G>A	XP_016868601.1:p.Trp1343Ter
XM_024447074.1:c.7256G>A	XP_024302842.1:p.Trp2419Ter
NM_017890.5:c.8471G>A MANE Plus Clinical	NP_060360.3:p.Trp2824Ter
NM_152564.5:c.8396G>A MANE Select	NP_689777.3:p.Trp2799Ter