Canonical Allele Identifier: CA3156098651

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99818473T= , CM000670.2:g.99818473T=	GRCh38
NC_000008.10:g.100830701T= , CM000670.1:g.100830701T=	GRCh37
NC_000008.9:g.100899877T=	NCBI36
NG_007098.2:g.810208T= , LRG_351:g.810208T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8459T=	ENSP00000507923.1:p.Ile2820=
ENST00000682358.1:n.8529T=
ENST00000683334.1:c.*4141T=	ENSP00000507369.1:n.*4141T=
ENST00000357162.7:c.8384T= MANE Select	ENSP00000349685.2:p.Ile2795=
ENST00000358544.7:c.8459T= MANE Plus Clinical	ENSP00000351346.2:p.Ile2820=
ENST00000357162.6:c.8384T=	ENSP00000349685.2:p.Ile2795=
ENST00000358544.6:c.8459T=	ENSP00000351346.2:p.Ile2820=
NM_017890.4:c.8459T= , LRG_351t1:c.8459T=	NP_060360.3:p.Ile2820=
NM_152564.4:c.8384T= , LRG_351t2:c.8384T=	NP_689777.3:p.Ile2795=
XM_005250800.2:c.8459T=	XP_005250857.1:p.Ile2820=
XM_005250801.3:c.8459T=	XP_005250858.1:p.Ile2820=
XM_011516848.1:c.8456T=	XP_011515150.1:p.Ile2819=
XM_011516849.1:c.8381T=	XP_011515151.1:p.Ile2794=
XM_011516850.1:c.8081T=	XP_011515152.1:p.Ile2694=
XM_011516851.1:c.5345T=	XP_011515153.1:p.Ile1782=
XM_011516852.1:c.5345T=	XP_011515154.1:p.Ile1782=
XM_011516854.1:c.4238T=	XP_011515156.1:p.Ile1413=
XM_005250800.3:c.8459T=	XP_005250857.1:p.Ile2820=
XM_005250801.5:c.8459T=	XP_005250858.1:p.Ile2820=
XM_011516848.2:c.8456T=	XP_011515150.1:p.Ile2819=
XM_011516849.2:c.8381T=	XP_011515151.1:p.Ile2794=
XM_011516850.2:c.8081T=	XP_011515152.1:p.Ile2694=
XM_011516851.2:c.5345T=	XP_011515153.1:p.Ile1782=
XM_011516852.2:c.5345T=	XP_011515154.1:p.Ile1782=
XM_011516854.2:c.4238T=	XP_011515156.1:p.Ile1413=
XM_017013109.1:c.8264T=	XP_016868598.1:p.Ile2755=
XM_017013111.1:c.5345T=	XP_016868600.1:p.Ile1782=
XM_017013112.1:c.4016T=	XP_016868601.1:p.Ile1339=
XM_024447074.1:c.7244T=	XP_024302842.1:p.Ile2415=
NM_017890.5:c.8459T= MANE Plus Clinical	NP_060360.3:p.Ile2820=
NM_152564.5:c.8384T= MANE Select	NP_689777.3:p.Ile2795=