Canonical Allele Identifier: CA371791713

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 2095011
• ClinVar RCV Id: RCV003012120
• gnomAD v4: 8-99868294-A-G
• MyVariant Identifiers: chr8:g.100880522A>G (hg19) ; chr8:g.99868294A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868294A>G , CM000670.2:g.99868294A>G	GRCh38
NC_000008.10:g.100880522A>G , CM000670.1:g.100880522A>G	GRCh37
NC_000008.9:g.100949698A>G	NCBI36
NG_007098.2:g.860029A>G , LRG_351:g.860029A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*390A>G	ENSP00000507923.1:n.*390A>G
ENST00000682358.1:n.11366A>G
ENST00000683334.1:c.*6978A>G	ENSP00000507369.1:n.*6978A>G
ENST00000357162.7:c.11221A>G MANE Select	ENSP00000349685.2:p.Ile3741Val
ENST00000358544.7:c.11296A>G MANE Plus Clinical	ENSP00000351346.2:p.Ile3766Val
ENST00000357162.6:c.11221A>G	ENSP00000349685.2:p.Ile3741Val
ENST00000358544.6:c.11296A>G	ENSP00000351346.2:p.Ile3766Val
ENST00000493587.1:n.238A>G
NM_017890.4:c.11296A>G , LRG_351t1:c.11296A>G	NP_060360.3:p.Ile3766Val
NM_152564.4:c.11221A>G , LRG_351t2:c.11221A>G	NP_689777.3:p.Ile3741Val
XM_005250800.2:c.11296A>G	XP_005250857.1:p.Ile3766Val
XM_005250801.3:c.11296A>G	XP_005250858.1:p.Ile3766Val
XM_011516848.1:c.11293A>G	XP_011515150.1:p.Ile3765Val
XM_011516849.1:c.11218A>G	XP_011515151.1:p.Ile3740Val
XM_011516850.1:c.10918A>G	XP_011515152.1:p.Ile3640Val
XM_011516851.1:c.8182A>G	XP_011515153.1:p.Ile2728Val
XM_011516852.1:c.8182A>G	XP_011515154.1:p.Ile2728Val
XM_011516854.1:c.7075A>G	XP_011515156.1:p.Ile2359Val
XM_005250800.3:c.11296A>G	XP_005250857.1:p.Ile3766Val
XM_005250801.5:c.11296A>G	XP_005250858.1:p.Ile3766Val
XM_011516848.2:c.11293A>G	XP_011515150.1:p.Ile3765Val
XM_011516849.2:c.11218A>G	XP_011515151.1:p.Ile3740Val
XM_011516850.2:c.10918A>G	XP_011515152.1:p.Ile3640Val
XM_011516851.2:c.8182A>G	XP_011515153.1:p.Ile2728Val
XM_011516852.2:c.8182A>G	XP_011515154.1:p.Ile2728Val
XM_011516854.2:c.7075A>G	XP_011515156.1:p.Ile2359Val
XM_017013109.1:c.11101A>G	XP_016868598.1:p.Ile3701Val
XM_017013111.1:c.8182A>G	XP_016868600.1:p.Ile2728Val
XM_017013112.1:c.6853A>G	XP_016868601.1:p.Ile2285Val
XM_024447074.1:c.10081A>G	XP_024302842.1:p.Ile3361Val
NM_017890.5:c.11296A>G MANE Plus Clinical	NP_060360.3:p.Ile3766Val
NM_152564.5:c.11221A>G MANE Select	NP_689777.3:p.Ile3741Val