Canonical Allele Identifier: CA3156712810

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99853495T= , CM000670.2:g.99853495T=	GRCh38
NC_000008.10:g.100865723T= , CM000670.1:g.100865723T=	GRCh37
NC_000008.9:g.100934899T=	NCBI36
NG_007098.2:g.845230T= , LRG_351:g.845230T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.10181T=	ENSP00000507923.1:p.Leu3394=
ENST00000682358.1:n.10251T=
ENST00000683334.1:c.*5863T=	ENSP00000507369.1:n.*5863T=
ENST00000357162.7:c.10106T= MANE Select	ENSP00000349685.2:p.Leu3369=
ENST00000358544.7:c.10181T= MANE Plus Clinical	ENSP00000351346.2:p.Leu3394=
ENST00000357162.6:c.10106T=	ENSP00000349685.2:p.Leu3369=
ENST00000358544.6:c.10181T=	ENSP00000351346.2:p.Leu3394=
NM_017890.4:c.10181T= , LRG_351t1:c.10181T=	NP_060360.3:p.Leu3394=
NM_152564.4:c.10106T= , LRG_351t2:c.10106T=	NP_689777.3:p.Leu3369=
XM_005250800.2:c.10181T=	XP_005250857.1:p.Leu3394=
XM_005250801.3:c.10181T=	XP_005250858.1:p.Leu3394=
XM_011516848.1:c.10178T=	XP_011515150.1:p.Leu3393=
XM_011516849.1:c.10103T=	XP_011515151.1:p.Leu3368=
XM_011516850.1:c.9803T=	XP_011515152.1:p.Leu3268=
XM_011516851.1:c.7067T=	XP_011515153.1:p.Leu2356=
XM_011516852.1:c.7067T=	XP_011515154.1:p.Leu2356=
XM_011516854.1:c.5960T=	XP_011515156.1:p.Leu1987=
XM_005250800.3:c.10181T=	XP_005250857.1:p.Leu3394=
XM_005250801.5:c.10181T=	XP_005250858.1:p.Leu3394=
XM_011516848.2:c.10178T=	XP_011515150.1:p.Leu3393=
XM_011516849.2:c.10103T=	XP_011515151.1:p.Leu3368=
XM_011516850.2:c.9803T=	XP_011515152.1:p.Leu3268=
XM_011516851.2:c.7067T=	XP_011515153.1:p.Leu2356=
XM_011516852.2:c.7067T=	XP_011515154.1:p.Leu2356=
XM_011516854.2:c.5960T=	XP_011515156.1:p.Leu1987=
XM_017013109.1:c.9986T=	XP_016868598.1:p.Leu3329=
XM_017013111.1:c.7067T=	XP_016868600.1:p.Leu2356=
XM_017013112.1:c.5738T=	XP_016868601.1:p.Leu1913=
XM_024447074.1:c.8966T=	XP_024302842.1:p.Leu2989=
NM_017890.5:c.10181T= MANE Plus Clinical	NP_060360.3:p.Leu3394=
NM_152564.5:c.10106T= MANE Select	NP_689777.3:p.Leu3369=