Canonical Allele Identifier: CA2837998686

Gene: VPS13B COX6C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875569A= , CM000670.2:g.99875569A=	GRCh38
NC_000008.10:g.100887797A= , CM000670.1:g.100887797A=	GRCh37
NC_000008.9:g.100956973A=	NCBI36
NG_007098.2:g.867304A= , LRG_351:g.867304A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1626A= (VPS13B)	ENSP00000507923.1:n.*1626A=
ENST00000682358.1:n.12602A= (VPS13B)
ENST00000683334.1:c.*7654A= (VPS13B)	ENSP00000507369.1:n.*7654A=
ENST00000357162.7:c.11897A= (VPS13B) MANE Select	ENSP00000349685.2:p.Lys3966=
ENST00000358544.7:c.11972A= (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Lys3991=
ENST00000357162.6:c.11897A= (VPS13B)	ENSP00000349685.2:p.Lys3966=
ENST00000358544.6:c.11972A= (VPS13B)	ENSP00000351346.2:p.Lys3991=
ENST00000493587.1:n.1474A= (VPS13B)
ENST00000520517.5:c.*142-477T= (COX6C)	ENSP00000429991.1:n.*142-477T=
ENST00000522934.5:c.*142-2276T= (COX6C)	ENSP00000428702.1:n.*142-2276T=
NM_017890.4:c.11972A= , LRG_351t1:c.11972A= (VPS13B)	NP_060360.3:p.Lys3991=
NM_152564.4:c.11897A= , LRG_351t2:c.11897A= (VPS13B)	NP_689777.3:p.Lys3966=
XM_005250800.2:c.11972A= (VPS13B)	XP_005250857.1:p.Lys3991=
XM_005250801.3:c.11972A= (VPS13B)	XP_005250858.1:p.Lys3991=
XM_011516848.1:c.11969A= (VPS13B)	XP_011515150.1:p.Lys3990=
XM_011516849.1:c.11894A= (VPS13B)	XP_011515151.1:p.Lys3965=
XM_011516850.1:c.11594A= (VPS13B)	XP_011515152.1:p.Lys3865=
XM_011516851.1:c.8858A= (VPS13B)	XP_011515153.1:p.Lys2953=
XM_011516852.1:c.8858A= (VPS13B)	XP_011515154.1:p.Lys2953=
XM_011516854.1:c.7751A= (VPS13B)	XP_011515156.1:p.Lys2584=
XM_005250800.3:c.11972A= (VPS13B)	XP_005250857.1:p.Lys3991=
XM_005250801.5:c.11972A= (VPS13B)	XP_005250858.1:p.Lys3991=
XM_011516848.2:c.11969A= (VPS13B)	XP_011515150.1:p.Lys3990=
XM_011516849.2:c.11894A= (VPS13B)	XP_011515151.1:p.Lys3965=
XM_011516850.2:c.11594A= (VPS13B)	XP_011515152.1:p.Lys3865=
XM_011516851.2:c.8858A= (VPS13B)	XP_011515153.1:p.Lys2953=
XM_011516852.2:c.8858A= (VPS13B)	XP_011515154.1:p.Lys2953=
XM_011516854.2:c.7751A= (VPS13B)	XP_011515156.1:p.Lys2584=
XM_017013109.1:c.11777A= (VPS13B)	XP_016868598.1:p.Lys3926=
XM_017013111.1:c.8858A= (VPS13B)	XP_016868600.1:p.Lys2953=
XM_017013112.1:c.7529A= (VPS13B)	XP_016868601.1:p.Lys2510=
XM_024447074.1:c.10757A= (VPS13B)	XP_024302842.1:p.Lys3586=
NM_017890.5:c.11972A= (VPS13B) MANE Plus Clinical	NP_060360.3:p.Lys3991=
NM_152564.5:c.11897A= (VPS13B) MANE Select	NP_689777.3:p.Lys3966=