Canonical Allele Identifier: CA371781797

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100844784A>G (hg19) ; chr8:g.99832556A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99832556A>G , CM000670.2:g.99832556A>G	GRCh38
NC_000008.10:g.100844784A>G , CM000670.1:g.100844784A>G	GRCh37
NC_000008.9:g.100913960A>G	NCBI36
NG_007098.2:g.824291A>G , LRG_351:g.824291A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.9593A>G	ENSP00000507923.1:p.Gln3198Arg
ENST00000682358.1:n.9663A>G
ENST00000683334.1:c.*5275A>G	ENSP00000507369.1:n.*5275A>G
ENST00000357162.7:c.9518A>G MANE Select	ENSP00000349685.2:p.Gln3173Arg
ENST00000358544.7:c.9593A>G MANE Plus Clinical	ENSP00000351346.2:p.Gln3198Arg
ENST00000357162.6:c.9518A>G	ENSP00000349685.2:p.Gln3173Arg
ENST00000358544.6:c.9593A>G	ENSP00000351346.2:p.Gln3198Arg
NM_017890.4:c.9593A>G , LRG_351t1:c.9593A>G	NP_060360.3:p.Gln3198Arg
NM_152564.4:c.9518A>G , LRG_351t2:c.9518A>G	NP_689777.3:p.Gln3173Arg
XM_005250800.2:c.9593A>G	XP_005250857.1:p.Gln3198Arg
XM_005250801.3:c.9593A>G	XP_005250858.1:p.Gln3198Arg
XM_011516848.1:c.9590A>G	XP_011515150.1:p.Gln3197Arg
XM_011516849.1:c.9515A>G	XP_011515151.1:p.Gln3172Arg
XM_011516850.1:c.9215A>G	XP_011515152.1:p.Gln3072Arg
XM_011516851.1:c.6479A>G	XP_011515153.1:p.Gln2160Arg
XM_011516852.1:c.6479A>G	XP_011515154.1:p.Gln2160Arg
XM_011516854.1:c.5372A>G	XP_011515156.1:p.Gln1791Arg
XM_005250800.3:c.9593A>G	XP_005250857.1:p.Gln3198Arg
XM_005250801.5:c.9593A>G	XP_005250858.1:p.Gln3198Arg
XM_011516848.2:c.9590A>G	XP_011515150.1:p.Gln3197Arg
XM_011516849.2:c.9515A>G	XP_011515151.1:p.Gln3172Arg
XM_011516850.2:c.9215A>G	XP_011515152.1:p.Gln3072Arg
XM_011516851.2:c.6479A>G	XP_011515153.1:p.Gln2160Arg
XM_011516852.2:c.6479A>G	XP_011515154.1:p.Gln2160Arg
XM_011516854.2:c.5372A>G	XP_011515156.1:p.Gln1791Arg
XM_017013109.1:c.9398A>G	XP_016868598.1:p.Gln3133Arg
XM_017013111.1:c.6479A>G	XP_016868600.1:p.Gln2160Arg
XM_017013112.1:c.5150A>G	XP_016868601.1:p.Gln1717Arg
XM_024447074.1:c.8378A>G	XP_024302842.1:p.Gln2793Arg
NM_017890.5:c.9593A>G MANE Plus Clinical	NP_060360.3:p.Gln3198Arg
NM_152564.5:c.9518A>G MANE Select	NP_689777.3:p.Gln3173Arg