Canonical Allele Identifier: CA371791935

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99868346-C-A
• MyVariant Identifiers: chr8:g.100880574C>A (hg19) ; chr8:g.99868346C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868346C>A , CM000670.2:g.99868346C>A	GRCh38
NC_000008.10:g.100880574C>A , CM000670.1:g.100880574C>A	GRCh37
NC_000008.9:g.100949750C>A	NCBI36
NG_007098.2:g.860081C>A , LRG_351:g.860081C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*442C>A	ENSP00000507923.1:n.*442C>A
ENST00000682358.1:n.11418C>A
ENST00000683334.1:c.*7030C>A	ENSP00000507369.1:n.*7030C>A
ENST00000357162.7:c.11273C>A MANE Select	ENSP00000349685.2:p.Ala3758Glu
ENST00000358544.7:c.11348C>A MANE Plus Clinical	ENSP00000351346.2:p.Ala3783Glu
ENST00000357162.6:c.11273C>A	ENSP00000349685.2:p.Ala3758Glu
ENST00000358544.6:c.11348C>A	ENSP00000351346.2:p.Ala3783Glu
ENST00000493587.1:n.290C>A
NM_017890.4:c.11348C>A , LRG_351t1:c.11348C>A	NP_060360.3:p.Ala3783Glu
NM_152564.4:c.11273C>A , LRG_351t2:c.11273C>A	NP_689777.3:p.Ala3758Glu
XM_005250800.2:c.11348C>A	XP_005250857.1:p.Ala3783Glu
XM_005250801.3:c.11348C>A	XP_005250858.1:p.Ala3783Glu
XM_011516848.1:c.11345C>A	XP_011515150.1:p.Ala3782Glu
XM_011516849.1:c.11270C>A	XP_011515151.1:p.Ala3757Glu
XM_011516850.1:c.10970C>A	XP_011515152.1:p.Ala3657Glu
XM_011516851.1:c.8234C>A	XP_011515153.1:p.Ala2745Glu
XM_011516852.1:c.8234C>A	XP_011515154.1:p.Ala2745Glu
XM_011516854.1:c.7127C>A	XP_011515156.1:p.Ala2376Glu
XM_005250800.3:c.11348C>A	XP_005250857.1:p.Ala3783Glu
XM_005250801.5:c.11348C>A	XP_005250858.1:p.Ala3783Glu
XM_011516848.2:c.11345C>A	XP_011515150.1:p.Ala3782Glu
XM_011516849.2:c.11270C>A	XP_011515151.1:p.Ala3757Glu
XM_011516850.2:c.10970C>A	XP_011515152.1:p.Ala3657Glu
XM_011516851.2:c.8234C>A	XP_011515153.1:p.Ala2745Glu
XM_011516852.2:c.8234C>A	XP_011515154.1:p.Ala2745Glu
XM_011516854.2:c.7127C>A	XP_011515156.1:p.Ala2376Glu
XM_017013109.1:c.11153C>A	XP_016868598.1:p.Ala3718Glu
XM_017013111.1:c.8234C>A	XP_016868600.1:p.Ala2745Glu
XM_017013112.1:c.6905C>A	XP_016868601.1:p.Ala2302Glu
XM_024447074.1:c.10133C>A	XP_024302842.1:p.Ala3378Glu
NM_017890.5:c.11348C>A MANE Plus Clinical	NP_060360.3:p.Ala3783Glu
NM_152564.5:c.11273C>A MANE Select	NP_689777.3:p.Ala3758Glu