Canonical Allele Identifier: CA371783840

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100847811T>A (hg19) ; chr8:g.99835583T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835583T>A , CM000670.2:g.99835583T>A	GRCh38
NC_000008.10:g.100847811T>A , CM000670.1:g.100847811T>A	GRCh37
NC_000008.9:g.100916987T>A	NCBI36
NG_007098.2:g.827318T>A , LRG_351:g.827318T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.9862T>A	ENSP00000507923.1:p.Cys3288Ser
ENST00000682358.1:n.9932T>A
ENST00000683334.1:c.*5544T>A	ENSP00000507369.1:n.*5544T>A
ENST00000357162.7:c.9787T>A MANE Select	ENSP00000349685.2:p.Cys3263Ser
ENST00000358544.7:c.9862T>A MANE Plus Clinical	ENSP00000351346.2:p.Cys3288Ser
ENST00000357162.6:c.9787T>A	ENSP00000349685.2:p.Cys3263Ser
ENST00000358544.6:c.9862T>A	ENSP00000351346.2:p.Cys3288Ser
NM_017890.4:c.9862T>A , LRG_351t1:c.9862T>A	NP_060360.3:p.Cys3288Ser
NM_152564.4:c.9787T>A , LRG_351t2:c.9787T>A	NP_689777.3:p.Cys3263Ser
XM_005250800.2:c.9862T>A	XP_005250857.1:p.Cys3288Ser
XM_005250801.3:c.9862T>A	XP_005250858.1:p.Cys3288Ser
XM_011516848.1:c.9859T>A	XP_011515150.1:p.Cys3287Ser
XM_011516849.1:c.9784T>A	XP_011515151.1:p.Cys3262Ser
XM_011516850.1:c.9484T>A	XP_011515152.1:p.Cys3162Ser
XM_011516851.1:c.6748T>A	XP_011515153.1:p.Cys2250Ser
XM_011516852.1:c.6748T>A	XP_011515154.1:p.Cys2250Ser
XM_011516854.1:c.5641T>A	XP_011515156.1:p.Cys1881Ser
XM_005250800.3:c.9862T>A	XP_005250857.1:p.Cys3288Ser
XM_005250801.5:c.9862T>A	XP_005250858.1:p.Cys3288Ser
XM_011516848.2:c.9859T>A	XP_011515150.1:p.Cys3287Ser
XM_011516849.2:c.9784T>A	XP_011515151.1:p.Cys3262Ser
XM_011516850.2:c.9484T>A	XP_011515152.1:p.Cys3162Ser
XM_011516851.2:c.6748T>A	XP_011515153.1:p.Cys2250Ser
XM_011516852.2:c.6748T>A	XP_011515154.1:p.Cys2250Ser
XM_011516854.2:c.5641T>A	XP_011515156.1:p.Cys1881Ser
XM_017013109.1:c.9667T>A	XP_016868598.1:p.Cys3223Ser
XM_017013111.1:c.6748T>A	XP_016868600.1:p.Cys2250Ser
XM_017013112.1:c.5419T>A	XP_016868601.1:p.Cys1807Ser
XM_024447074.1:c.8647T>A	XP_024302842.1:p.Cys2883Ser
NM_017890.5:c.9862T>A MANE Plus Clinical	NP_060360.3:p.Cys3288Ser
NM_152564.5:c.9787T>A MANE Select	NP_689777.3:p.Cys3263Ser