Canonical Allele Identifier: CA371791793

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1500671
• ClinVar RCV Id: RCV002015830
• dbSNP Id: rs2130962900
• MyVariant Identifiers: chr8:g.100880543C>A (hg19) ; chr8:g.99868315C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868315C>A , CM000670.2:g.99868315C>A	GRCh38
NC_000008.10:g.100880543C>A , CM000670.1:g.100880543C>A	GRCh37
NC_000008.9:g.100949719C>A	NCBI36
NG_007098.2:g.860050C>A , LRG_351:g.860050C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*411C>A	ENSP00000507923.1:n.*411C>A
ENST00000682358.1:n.11387C>A
ENST00000683334.1:c.*6999C>A	ENSP00000507369.1:n.*6999C>A
ENST00000357162.7:c.11242C>A MANE Select	ENSP00000349685.2:p.Pro3748Thr
ENST00000358544.7:c.11317C>A MANE Plus Clinical	ENSP00000351346.2:p.Pro3773Thr
ENST00000357162.6:c.11242C>A	ENSP00000349685.2:p.Pro3748Thr
ENST00000358544.6:c.11317C>A	ENSP00000351346.2:p.Pro3773Thr
ENST00000493587.1:n.259C>A
NM_017890.4:c.11317C>A , LRG_351t1:c.11317C>A	NP_060360.3:p.Pro3773Thr
NM_152564.4:c.11242C>A , LRG_351t2:c.11242C>A	NP_689777.3:p.Pro3748Thr
XM_005250800.2:c.11317C>A	XP_005250857.1:p.Pro3773Thr
XM_005250801.3:c.11317C>A	XP_005250858.1:p.Pro3773Thr
XM_011516848.1:c.11314C>A	XP_011515150.1:p.Pro3772Thr
XM_011516849.1:c.11239C>A	XP_011515151.1:p.Pro3747Thr
XM_011516850.1:c.10939C>A	XP_011515152.1:p.Pro3647Thr
XM_011516851.1:c.8203C>A	XP_011515153.1:p.Pro2735Thr
XM_011516852.1:c.8203C>A	XP_011515154.1:p.Pro2735Thr
XM_011516854.1:c.7096C>A	XP_011515156.1:p.Pro2366Thr
XM_005250800.3:c.11317C>A	XP_005250857.1:p.Pro3773Thr
XM_005250801.5:c.11317C>A	XP_005250858.1:p.Pro3773Thr
XM_011516848.2:c.11314C>A	XP_011515150.1:p.Pro3772Thr
XM_011516849.2:c.11239C>A	XP_011515151.1:p.Pro3747Thr
XM_011516850.2:c.10939C>A	XP_011515152.1:p.Pro3647Thr
XM_011516851.2:c.8203C>A	XP_011515153.1:p.Pro2735Thr
XM_011516852.2:c.8203C>A	XP_011515154.1:p.Pro2735Thr
XM_011516854.2:c.7096C>A	XP_011515156.1:p.Pro2366Thr
XM_017013109.1:c.11122C>A	XP_016868598.1:p.Pro3708Thr
XM_017013111.1:c.8203C>A	XP_016868600.1:p.Pro2735Thr
XM_017013112.1:c.6874C>A	XP_016868601.1:p.Pro2292Thr
XM_024447074.1:c.10102C>A	XP_024302842.1:p.Pro3368Thr
NM_017890.5:c.11317C>A MANE Plus Clinical	NP_060360.3:p.Pro3773Thr
NM_152564.5:c.11242C>A MANE Select	NP_689777.3:p.Pro3748Thr