Canonical Allele Identifier: CA371792494

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100880685C>T (hg19) ; chr8:g.99868457C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868457C>T , CM000670.2:g.99868457C>T	GRCh38
NC_000008.10:g.100880685C>T , CM000670.1:g.100880685C>T	GRCh37
NC_000008.9:g.100949861C>T	NCBI36
NG_007098.2:g.860192C>T , LRG_351:g.860192C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*553C>T	ENSP00000507923.1:n.*553C>T
ENST00000682358.1:n.11529C>T
ENST00000683334.1:c.*7141C>T	ENSP00000507369.1:n.*7141C>T
ENST00000357162.7:c.11384C>T MANE Select	ENSP00000349685.2:p.Thr3795Ile
ENST00000358544.7:c.11459C>T MANE Plus Clinical	ENSP00000351346.2:p.Thr3820Ile
ENST00000357162.6:c.11384C>T	ENSP00000349685.2:p.Thr3795Ile
ENST00000358544.6:c.11459C>T	ENSP00000351346.2:p.Thr3820Ile
ENST00000493587.1:n.401C>T
NM_017890.4:c.11459C>T , LRG_351t1:c.11459C>T	NP_060360.3:p.Thr3820Ile
NM_152564.4:c.11384C>T , LRG_351t2:c.11384C>T	NP_689777.3:p.Thr3795Ile
XM_005250800.2:c.11459C>T	XP_005250857.1:p.Thr3820Ile
XM_005250801.3:c.11459C>T	XP_005250858.1:p.Thr3820Ile
XM_011516848.1:c.11456C>T	XP_011515150.1:p.Thr3819Ile
XM_011516849.1:c.11381C>T	XP_011515151.1:p.Thr3794Ile
XM_011516850.1:c.11081C>T	XP_011515152.1:p.Thr3694Ile
XM_011516851.1:c.8345C>T	XP_011515153.1:p.Thr2782Ile
XM_011516852.1:c.8345C>T	XP_011515154.1:p.Thr2782Ile
XM_011516854.1:c.7238C>T	XP_011515156.1:p.Thr2413Ile
XM_005250800.3:c.11459C>T	XP_005250857.1:p.Thr3820Ile
XM_005250801.5:c.11459C>T	XP_005250858.1:p.Thr3820Ile
XM_011516848.2:c.11456C>T	XP_011515150.1:p.Thr3819Ile
XM_011516849.2:c.11381C>T	XP_011515151.1:p.Thr3794Ile
XM_011516850.2:c.11081C>T	XP_011515152.1:p.Thr3694Ile
XM_011516851.2:c.8345C>T	XP_011515153.1:p.Thr2782Ile
XM_011516852.2:c.8345C>T	XP_011515154.1:p.Thr2782Ile
XM_011516854.2:c.7238C>T	XP_011515156.1:p.Thr2413Ile
XM_017013109.1:c.11264C>T	XP_016868598.1:p.Thr3755Ile
XM_017013111.1:c.8345C>T	XP_016868600.1:p.Thr2782Ile
XM_017013112.1:c.7016C>T	XP_016868601.1:p.Thr2339Ile
XM_024447074.1:c.10244C>T	XP_024302842.1:p.Thr3415Ile
NM_017890.5:c.11459C>T MANE Plus Clinical	NP_060360.3:p.Thr3820Ile
NM_152564.5:c.11384C>T MANE Select	NP_689777.3:p.Thr3795Ile