Canonical Allele Identifier: CA3156170629

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99859307G= , CM000670.2:g.99859307G=	GRCh38
NC_000008.10:g.100871535G= , CM000670.1:g.100871535G=	GRCh37
NC_000008.9:g.100940711G=	NCBI36
NG_007098.2:g.851042G= , LRG_351:g.851042G=

Transcript Alleles

HGVS	Amino-acid Change
NM_152564.5:c.10871G= MANE Select	NP_689777.3:p.Trp3624=
ENST00000357162.7:c.10871G= MANE Select	ENSP00000349685.2:p.Trp3624=
NM_017890.5:c.10946G= MANE Plus Clinical	NP_060360.3:p.Trp3649=
ENST00000358544.7:c.10946G= MANE Plus Clinical	ENSP00000351346.2:p.Trp3649=
NM_017890.4:c.10946G= , LRG_351t1:c.10946G=	NP_060360.3:p.Trp3649=
NM_152564.4:c.10871G= , LRG_351t2:c.10871G=	NP_689777.3:p.Trp3624=
ENST00000357162.6:c.10871G=	ENSP00000349685.2:p.Trp3624=
ENST00000358544.6:c.10946G=	ENSP00000351346.2:p.Trp3649=
ENST00000682153.1:c.*40G=	ENSP00000507923.1:n.*40G=
ENST00000682358.1:n.11016G=
ENST00000683334.1:c.*6628G=	ENSP00000507369.1:n.*6628G=
XM_005250800.2:c.10946G=	XP_005250857.1:p.Trp3649=
XM_005250800.3:c.10946G=	XP_005250857.1:p.Trp3649=
XM_005250801.3:c.10946G=	XP_005250858.1:p.Trp3649=
XM_005250801.5:c.10946G=	XP_005250858.1:p.Trp3649=
XM_011516848.1:c.10943G=	XP_011515150.1:p.Trp3648=
XM_011516848.2:c.10943G=	XP_011515150.1:p.Trp3648=
XM_011516849.1:c.10868G=	XP_011515151.1:p.Trp3623=
XM_011516849.2:c.10868G=	XP_011515151.1:p.Trp3623=
XM_011516850.1:c.10568G=	XP_011515152.1:p.Trp3523=
XM_011516850.2:c.10568G=	XP_011515152.1:p.Trp3523=
XM_011516851.1:c.7832G=	XP_011515153.1:p.Trp2611=
XM_011516851.2:c.7832G=	XP_011515153.1:p.Trp2611=
XM_011516852.1:c.7832G=	XP_011515154.1:p.Trp2611=
XM_011516852.2:c.7832G=	XP_011515154.1:p.Trp2611=
XM_011516854.1:c.6725G=	XP_011515156.1:p.Trp2242=
XM_011516854.2:c.6725G=	XP_011515156.1:p.Trp2242=
XM_017013109.1:c.10751G=	XP_016868598.1:p.Trp3584=
XM_017013111.1:c.7832G=	XP_016868600.1:p.Trp2611=
XM_017013112.1:c.6503G=	XP_016868601.1:p.Trp2168=
XM_024447074.1:c.9731G=	XP_024302842.1:p.Trp3244=