Canonical Allele Identifier: CA371791745

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1720684
• ClinVar RCV Id: RCV002305201
• gnomAD v4: 8-99868303-A-G
• MyVariant Identifiers: chr8:g.100880531A>G (hg19) ; chr8:g.99868303A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868303A>G , CM000670.2:g.99868303A>G	GRCh38
NC_000008.10:g.100880531A>G , CM000670.1:g.100880531A>G	GRCh37
NC_000008.9:g.100949707A>G	NCBI36
NG_007098.2:g.860038A>G , LRG_351:g.860038A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*399A>G	ENSP00000507923.1:n.*399A>G
ENST00000682358.1:n.11375A>G
ENST00000683334.1:c.*6987A>G	ENSP00000507369.1:n.*6987A>G
ENST00000357162.7:c.11230A>G MANE Select	ENSP00000349685.2:p.Ile3744Val
ENST00000358544.7:c.11305A>G MANE Plus Clinical	ENSP00000351346.2:p.Ile3769Val
ENST00000357162.6:c.11230A>G	ENSP00000349685.2:p.Ile3744Val
ENST00000358544.6:c.11305A>G	ENSP00000351346.2:p.Ile3769Val
ENST00000493587.1:n.247A>G
NM_017890.4:c.11305A>G , LRG_351t1:c.11305A>G	NP_060360.3:p.Ile3769Val
NM_152564.4:c.11230A>G , LRG_351t2:c.11230A>G	NP_689777.3:p.Ile3744Val
XM_005250800.2:c.11305A>G	XP_005250857.1:p.Ile3769Val
XM_005250801.3:c.11305A>G	XP_005250858.1:p.Ile3769Val
XM_011516848.1:c.11302A>G	XP_011515150.1:p.Ile3768Val
XM_011516849.1:c.11227A>G	XP_011515151.1:p.Ile3743Val
XM_011516850.1:c.10927A>G	XP_011515152.1:p.Ile3643Val
XM_011516851.1:c.8191A>G	XP_011515153.1:p.Ile2731Val
XM_011516852.1:c.8191A>G	XP_011515154.1:p.Ile2731Val
XM_011516854.1:c.7084A>G	XP_011515156.1:p.Ile2362Val
XM_005250800.3:c.11305A>G	XP_005250857.1:p.Ile3769Val
XM_005250801.5:c.11305A>G	XP_005250858.1:p.Ile3769Val
XM_011516848.2:c.11302A>G	XP_011515150.1:p.Ile3768Val
XM_011516849.2:c.11227A>G	XP_011515151.1:p.Ile3743Val
XM_011516850.2:c.10927A>G	XP_011515152.1:p.Ile3643Val
XM_011516851.2:c.8191A>G	XP_011515153.1:p.Ile2731Val
XM_011516852.2:c.8191A>G	XP_011515154.1:p.Ile2731Val
XM_011516854.2:c.7084A>G	XP_011515156.1:p.Ile2362Val
XM_017013109.1:c.11110A>G	XP_016868598.1:p.Ile3704Val
XM_017013111.1:c.8191A>G	XP_016868600.1:p.Ile2731Val
XM_017013112.1:c.6862A>G	XP_016868601.1:p.Ile2288Val
XM_024447074.1:c.10090A>G	XP_024302842.1:p.Ile3364Val
NM_017890.5:c.11305A>G MANE Plus Clinical	NP_060360.3:p.Ile3769Val
NM_152564.5:c.11230A>G MANE Select	NP_689777.3:p.Ile3744Val