Canonical Allele Identifier: CA3156098647

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99720973C= , CM000670.2:g.99720973C=	GRCh38
NC_000008.10:g.100733201C= , CM000670.1:g.100733201C=	GRCh37
NC_000008.9:g.100802377C=	NCBI36
NG_007098.2:g.712708C= , LRG_351:g.712708C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7051C=	ENSP00000507923.1:p.Arg2351=
ENST00000682358.1:n.7121C=
ENST00000683334.1:c.*2733C=	ENSP00000507369.1:n.*2733C=
ENST00000357162.7:c.6976C= MANE Select	ENSP00000349685.2:p.Arg2326=
ENST00000358544.7:c.7051C= MANE Plus Clinical	ENSP00000351346.2:p.Arg2351=
ENST00000357162.6:c.6976C=	ENSP00000349685.2:p.Arg2326=
ENST00000358544.6:c.7051C=	ENSP00000351346.2:p.Arg2351=
ENST00000518569.1:n.106C=
NM_017890.4:c.7051C= , LRG_351t1:c.7051C=	NP_060360.3:p.Arg2351=
NM_152564.4:c.6976C= , LRG_351t2:c.6976C=	NP_689777.3:p.Arg2326=
XM_005250800.2:c.7051C=	XP_005250857.1:p.Arg2351=
XM_005250801.3:c.7051C=	XP_005250858.1:p.Arg2351=
XM_011516848.1:c.7048C=	XP_011515150.1:p.Arg2350=
XM_011516849.1:c.6973C=	XP_011515151.1:p.Arg2325=
XM_011516850.1:c.6673C=	XP_011515152.1:p.Arg2225=
XM_011516851.1:c.3937C=	XP_011515153.1:p.Arg1313=
XM_011516852.1:c.3937C=	XP_011515154.1:p.Arg1313=
XM_011516853.1:c.7051C=	XP_011515155.1:p.Arg2351=
XM_011516854.1:c.2830C=	XP_011515156.1:p.Arg944=
XR_928446.1:n.2066-1760G=
XM_005250800.3:c.7051C=	XP_005250857.1:p.Arg2351=
XM_005250801.5:c.7051C=	XP_005250858.1:p.Arg2351=
XM_011516848.2:c.7048C=	XP_011515150.1:p.Arg2350=
XM_011516849.2:c.6973C=	XP_011515151.1:p.Arg2325=
XM_011516850.2:c.6673C=	XP_011515152.1:p.Arg2225=
XM_011516851.2:c.3937C=	XP_011515153.1:p.Arg1313=
XM_011516852.2:c.3937C=	XP_011515154.1:p.Arg1313=
XM_011516853.2:c.7051C=	XP_011515155.1:p.Arg2351=
XM_011516854.2:c.2830C=	XP_011515156.1:p.Arg944=
XM_017013109.1:c.6856C=	XP_016868598.1:p.Arg2286=
XM_017013111.1:c.3937C=	XP_016868600.1:p.Arg1313=
XM_017013112.1:c.2608C=	XP_016868601.1:p.Arg870=
XM_024447074.1:c.5836C=	XP_024302842.1:p.Arg1946=
NM_017890.5:c.7051C= MANE Plus Clinical	NP_060360.3:p.Arg2351=
NM_152564.5:c.6976C= MANE Select	NP_689777.3:p.Arg2326=