Canonical Allele Identifier: CA371792027

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100880596G>C (hg19) ; chr8:g.99868368G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868368G>C , CM000670.2:g.99868368G>C	GRCh38
NC_000008.10:g.100880596G>C , CM000670.1:g.100880596G>C	GRCh37
NC_000008.9:g.100949772G>C	NCBI36
NG_007098.2:g.860103G>C , LRG_351:g.860103G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*464G>C	ENSP00000507923.1:n.*464G>C
ENST00000682358.1:n.11440G>C
ENST00000683334.1:c.*7052G>C	ENSP00000507369.1:n.*7052G>C
ENST00000357162.7:c.11295G>C MANE Select	ENSP00000349685.2:p.Lys3765Asn
ENST00000358544.7:c.11370G>C MANE Plus Clinical	ENSP00000351346.2:p.Lys3790Asn
ENST00000357162.6:c.11295G>C	ENSP00000349685.2:p.Lys3765Asn
ENST00000358544.6:c.11370G>C	ENSP00000351346.2:p.Lys3790Asn
ENST00000493587.1:n.312G>C
NM_017890.4:c.11370G>C , LRG_351t1:c.11370G>C	NP_060360.3:p.Lys3790Asn
NM_152564.4:c.11295G>C , LRG_351t2:c.11295G>C	NP_689777.3:p.Lys3765Asn
XM_005250800.2:c.11370G>C	XP_005250857.1:p.Lys3790Asn
XM_005250801.3:c.11370G>C	XP_005250858.1:p.Lys3790Asn
XM_011516848.1:c.11367G>C	XP_011515150.1:p.Lys3789Asn
XM_011516849.1:c.11292G>C	XP_011515151.1:p.Lys3764Asn
XM_011516850.1:c.10992G>C	XP_011515152.1:p.Lys3664Asn
XM_011516851.1:c.8256G>C	XP_011515153.1:p.Lys2752Asn
XM_011516852.1:c.8256G>C	XP_011515154.1:p.Lys2752Asn
XM_011516854.1:c.7149G>C	XP_011515156.1:p.Lys2383Asn
XM_005250800.3:c.11370G>C	XP_005250857.1:p.Lys3790Asn
XM_005250801.5:c.11370G>C	XP_005250858.1:p.Lys3790Asn
XM_011516848.2:c.11367G>C	XP_011515150.1:p.Lys3789Asn
XM_011516849.2:c.11292G>C	XP_011515151.1:p.Lys3764Asn
XM_011516850.2:c.10992G>C	XP_011515152.1:p.Lys3664Asn
XM_011516851.2:c.8256G>C	XP_011515153.1:p.Lys2752Asn
XM_011516852.2:c.8256G>C	XP_011515154.1:p.Lys2752Asn
XM_011516854.2:c.7149G>C	XP_011515156.1:p.Lys2383Asn
XM_017013109.1:c.11175G>C	XP_016868598.1:p.Lys3725Asn
XM_017013111.1:c.8256G>C	XP_016868600.1:p.Lys2752Asn
XM_017013112.1:c.6927G>C	XP_016868601.1:p.Lys2309Asn
XM_024447074.1:c.10155G>C	XP_024302842.1:p.Lys3385Asn
NM_017890.5:c.11370G>C MANE Plus Clinical	NP_060360.3:p.Lys3790Asn
NM_152564.5:c.11295G>C MANE Select	NP_689777.3:p.Lys3765Asn