Canonical Allele Identifier: CA3156712832

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99871527C= , CM000670.2:g.99871527C=	GRCh38
NC_000008.10:g.100883755C= , CM000670.1:g.100883755C=	GRCh37
NC_000008.9:g.100952931C=	NCBI36
NG_007098.2:g.863262C= , LRG_351:g.863262C=

Transcript Alleles

HGVS	Amino-acid Change
NM_152564.5:c.11575C= MANE Select	NP_689777.3:p.His3859=
ENST00000357162.7:c.11575C= MANE Select	ENSP00000349685.2:p.His3859=
NM_017890.5:c.11650C= MANE Plus Clinical	NP_060360.3:p.His3884=
ENST00000358544.7:c.11650C= MANE Plus Clinical	ENSP00000351346.2:p.His3884=
NM_017890.4:c.11650C= , LRG_351t1:c.11650C=	NP_060360.3:p.His3884=
NM_152564.4:c.11575C= , LRG_351t2:c.11575C=	NP_689777.3:p.His3859=
ENST00000357162.6:c.11575C=	ENSP00000349685.2:p.His3859=
ENST00000358544.6:c.11650C=	ENSP00000351346.2:p.His3884=
ENST00000493587.1:n.1152C=
ENST00000682153.1:c.*1304C=	ENSP00000507923.1:n.*1304C=
ENST00000682358.1:n.12280C=
ENST00000683334.1:c.*7332C=	ENSP00000507369.1:n.*7332C=
XM_005250800.2:c.11650C=	XP_005250857.1:p.His3884=
XM_005250800.3:c.11650C=	XP_005250857.1:p.His3884=
XM_005250801.3:c.11650C=	XP_005250858.1:p.His3884=
XM_005250801.5:c.11650C=	XP_005250858.1:p.His3884=
XM_011516848.1:c.11647C=	XP_011515150.1:p.His3883=
XM_011516848.2:c.11647C=	XP_011515150.1:p.His3883=
XM_011516849.1:c.11572C=	XP_011515151.1:p.His3858=
XM_011516849.2:c.11572C=	XP_011515151.1:p.His3858=
XM_011516850.1:c.11272C=	XP_011515152.1:p.His3758=
XM_011516850.2:c.11272C=	XP_011515152.1:p.His3758=
XM_011516851.1:c.8536C=	XP_011515153.1:p.His2846=
XM_011516851.2:c.8536C=	XP_011515153.1:p.His2846=
XM_011516852.1:c.8536C=	XP_011515154.1:p.His2846=
XM_011516852.2:c.8536C=	XP_011515154.1:p.His2846=
XM_011516854.1:c.7429C=	XP_011515156.1:p.His2477=
XM_011516854.2:c.7429C=	XP_011515156.1:p.His2477=
XM_017013109.1:c.11455C=	XP_016868598.1:p.His3819=
XM_017013111.1:c.8536C=	XP_016868600.1:p.His2846=
XM_017013112.1:c.7207C=	XP_016868601.1:p.His2403=
XM_024447074.1:c.10435C=	XP_024302842.1:p.His3479=