Canonical Allele Identifier: CA1805735950

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99511275G= , CM000670.2:g.99511275G=	GRCh38
NC_000008.10:g.100523503G= , CM000670.1:g.100523503G=	GRCh37
NC_000008.9:g.100592679G=	NCBI36
NG_007098.2:g.503010G= , LRG_351:g.503010G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355155.6:c.*246G=	ENSP00000347281.2:n.*246G=
ENST00000682153.1:c.4471G=	ENSP00000507923.1:p.Glu1491=
ENST00000682358.1:n.4541G=
ENST00000683334.1:c.*153G=	ENSP00000507369.1:n.*153G=
ENST00000357162.7:c.4396G= MANE Select	ENSP00000349685.2:p.Glu1466=
ENST00000358544.7:c.4471G= MANE Plus Clinical	ENSP00000351346.2:p.Glu1491=
ENST00000357162.6:c.4396G=	ENSP00000349685.2:p.Glu1466=
ENST00000358544.6:c.4471G=	ENSP00000351346.2:p.Glu1491=
ENST00000496144.5:c.*254G=	ENSP00000430900.1:n.*254G=
NM_017890.4:c.4471G= , LRG_351t1:c.4471G=	NP_060360.3:p.Glu1491=
NM_152564.4:c.4396G= , LRG_351t2:c.4396G=	NP_689777.3:p.Glu1466=
XM_005250800.2:c.4471G=	XP_005250857.1:p.Glu1491=
XM_005250801.3:c.4471G=	XP_005250858.1:p.Glu1491=
XM_006716510.2:c.4471G=	XP_006716573.1:p.Glu1491=
XM_011516848.1:c.4468G=	XP_011515150.1:p.Glu1490=
XM_011516849.1:c.4393G=	XP_011515151.1:p.Glu1465=
XM_011516850.1:c.4093G=	XP_011515152.1:p.Glu1365=
XM_011516851.1:c.1357G=	XP_011515153.1:p.Glu453=
XM_011516852.1:c.1357G=	XP_011515154.1:p.Glu453=
XM_011516853.1:c.4471G=	XP_011515155.1:p.Glu1491=
XM_011516854.1:c.250G=	XP_011515156.1:p.Glu84=
XR_928301.1:n.4574G=
XR_928302.1:n.4574G=
XR_928303.1:n.4574G=
XR_928304.1:n.4641G=
XM_005250800.3:c.4471G=	XP_005250857.1:p.Glu1491=
XM_005250801.5:c.4471G=	XP_005250858.1:p.Glu1491=
XM_006716510.3:c.4471G=	XP_006716573.1:p.Glu1491=
XM_011516848.2:c.4468G=	XP_011515150.1:p.Glu1490=
XM_011516849.2:c.4393G=	XP_011515151.1:p.Glu1465=
XM_011516850.2:c.4093G=	XP_011515152.1:p.Glu1365=
XM_011516851.2:c.1357G=	XP_011515153.1:p.Glu453=
XM_011516852.2:c.1357G=	XP_011515154.1:p.Glu453=
XM_011516853.2:c.4471G=	XP_011515155.1:p.Glu1491=
XM_011516854.2:c.250G=	XP_011515156.1:p.Glu84=
XM_017013109.1:c.4276G=	XP_016868598.1:p.Glu1426=
XM_017013111.1:c.1357G=	XP_016868600.1:p.Glu453=
XM_017013112.1:c.28G=	XP_016868601.1:p.Glu10=
XM_024447074.1:c.3256G=	XP_024302842.1:p.Glu1086=
XR_001745481.1:n.4541G=
XR_001745482.2:n.4432G=
XR_002956601.1:n.4638G=
XR_002956602.1:n.4590G=
XR_928302.2:n.4574G=
NM_017890.5:c.4471G= MANE Plus Clinical	NP_060360.3:p.Glu1491=
NM_152564.5:c.4396G= MANE Select	NP_689777.3:p.Glu1466=