Canonical Allele Identifier: CA252428

Gene: VPS13B

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_152564.5:c.6976C>T MANE Select	NP_689777.3:p.Arg2326Ter
ENST00000357162.7:c.6976C>T MANE Select	ENSP00000349685.2:p.Arg2326Ter
NM_017890.5:c.7051C>T MANE Plus Clinical	NP_060360.3:p.Arg2351Ter
ENST00000358544.7:c.7051C>T MANE Plus Clinical	ENSP00000351346.2:p.Arg2351Ter
NM_017890.4:c.7051C>T , LRG_351t1:c.7051C>T	NP_060360.3:p.Arg2351Ter
NM_152564.4:c.6976C>T , LRG_351t2:c.6976C>T	NP_689777.3:p.Arg2326Ter
ENST00000357162.6:c.6976C>T	ENSP00000349685.2:p.Arg2326Ter
ENST00000358544.6:c.7051C>T	ENSP00000351346.2:p.Arg2351Ter
ENST00000518569.1:n.106C>T
ENST00000682153.1:c.7051C>T	ENSP00000507923.1:p.Arg2351Ter
ENST00000682358.1:n.7121C>T
ENST00000683334.1:c.*2733C>T	ENSP00000507369.1:n.*2733C>T
XM_005250800.2:c.7051C>T	XP_005250857.1:p.Arg2351Ter
XM_005250800.3:c.7051C>T	XP_005250857.1:p.Arg2351Ter
XM_005250801.3:c.7051C>T	XP_005250858.1:p.Arg2351Ter
XM_005250801.5:c.7051C>T	XP_005250858.1:p.Arg2351Ter
XM_011516848.1:c.7048C>T	XP_011515150.1:p.Arg2350Ter
XM_011516848.2:c.7048C>T	XP_011515150.1:p.Arg2350Ter
XM_011516849.1:c.6973C>T	XP_011515151.1:p.Arg2325Ter
XM_011516849.2:c.6973C>T	XP_011515151.1:p.Arg2325Ter
XM_011516850.1:c.6673C>T	XP_011515152.1:p.Arg2225Ter
XM_011516850.2:c.6673C>T	XP_011515152.1:p.Arg2225Ter
XM_011516851.1:c.3937C>T	XP_011515153.1:p.Arg1313Ter
XM_011516851.2:c.3937C>T	XP_011515153.1:p.Arg1313Ter
XM_011516852.1:c.3937C>T	XP_011515154.1:p.Arg1313Ter
XM_011516852.2:c.3937C>T	XP_011515154.1:p.Arg1313Ter
XM_011516853.1:c.7051C>T	XP_011515155.1:p.Arg2351Ter
XM_011516853.2:c.7051C>T	XP_011515155.1:p.Arg2351Ter
XM_011516854.1:c.2830C>T	XP_011515156.1:p.Arg944Ter
XM_011516854.2:c.2830C>T	XP_011515156.1:p.Arg944Ter
XM_017013109.1:c.6856C>T	XP_016868598.1:p.Arg2286Ter
XM_017013111.1:c.3937C>T	XP_016868600.1:p.Arg1313Ter
XM_017013112.1:c.2608C>T	XP_016868601.1:p.Arg870Ter
XM_024447074.1:c.5836C>T	XP_024302842.1:p.Arg1946Ter
XR_928446.1:n.2066-1760G>A