Canonical Allele Identifier: CA371792279

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99868421-A-C
• MyVariant Identifiers: chr8:g.100880649A>C (hg19) ; chr8:g.99868421A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868421A>C , CM000670.2:g.99868421A>C	GRCh38
NC_000008.10:g.100880649A>C , CM000670.1:g.100880649A>C	GRCh37
NC_000008.9:g.100949825A>C	NCBI36
NG_007098.2:g.860156A>C , LRG_351:g.860156A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*517A>C	ENSP00000507923.1:n.*517A>C
ENST00000682358.1:n.11493A>C
ENST00000683334.1:c.*7105A>C	ENSP00000507369.1:n.*7105A>C
ENST00000357162.7:c.11348A>C MANE Select	ENSP00000349685.2:p.Lys3783Thr
ENST00000358544.7:c.11423A>C MANE Plus Clinical	ENSP00000351346.2:p.Lys3808Thr
ENST00000357162.6:c.11348A>C	ENSP00000349685.2:p.Lys3783Thr
ENST00000358544.6:c.11423A>C	ENSP00000351346.2:p.Lys3808Thr
ENST00000493587.1:n.365A>C
NM_017890.4:c.11423A>C , LRG_351t1:c.11423A>C	NP_060360.3:p.Lys3808Thr
NM_152564.4:c.11348A>C , LRG_351t2:c.11348A>C	NP_689777.3:p.Lys3783Thr
XM_005250800.2:c.11423A>C	XP_005250857.1:p.Lys3808Thr
XM_005250801.3:c.11423A>C	XP_005250858.1:p.Lys3808Thr
XM_011516848.1:c.11420A>C	XP_011515150.1:p.Lys3807Thr
XM_011516849.1:c.11345A>C	XP_011515151.1:p.Lys3782Thr
XM_011516850.1:c.11045A>C	XP_011515152.1:p.Lys3682Thr
XM_011516851.1:c.8309A>C	XP_011515153.1:p.Lys2770Thr
XM_011516852.1:c.8309A>C	XP_011515154.1:p.Lys2770Thr
XM_011516854.1:c.7202A>C	XP_011515156.1:p.Lys2401Thr
XM_005250800.3:c.11423A>C	XP_005250857.1:p.Lys3808Thr
XM_005250801.5:c.11423A>C	XP_005250858.1:p.Lys3808Thr
XM_011516848.2:c.11420A>C	XP_011515150.1:p.Lys3807Thr
XM_011516849.2:c.11345A>C	XP_011515151.1:p.Lys3782Thr
XM_011516850.2:c.11045A>C	XP_011515152.1:p.Lys3682Thr
XM_011516851.2:c.8309A>C	XP_011515153.1:p.Lys2770Thr
XM_011516852.2:c.8309A>C	XP_011515154.1:p.Lys2770Thr
XM_011516854.2:c.7202A>C	XP_011515156.1:p.Lys2401Thr
XM_017013109.1:c.11228A>C	XP_016868598.1:p.Lys3743Thr
XM_017013111.1:c.8309A>C	XP_016868600.1:p.Lys2770Thr
XM_017013112.1:c.6980A>C	XP_016868601.1:p.Lys2327Thr
XM_024447074.1:c.10208A>C	XP_024302842.1:p.Lys3403Thr
NM_017890.5:c.11423A>C MANE Plus Clinical	NP_060360.3:p.Lys3808Thr
NM_152564.5:c.11348A>C MANE Select	NP_689777.3:p.Lys3783Thr