Canonical Allele Identifier: CA462449186

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100789078A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776850A>G , CM000670.2:g.99776850A>G	GRCh38
NC_000008.10:g.100789078A>G , CM000670.1:g.100789078A>G	GRCh37
NC_000008.9:g.100858254A>G	NCBI36
NG_007098.2:g.768585A>G , LRG_351:g.768585A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7398A>G	ENSP00000507923.1:p.Arg2466=
ENST00000682358.1:n.7468A>G
ENST00000683334.1:c.*3080A>G	ENSP00000507369.1:n.*3080A>G
ENST00000357162.7:c.7323A>G MANE Select	ENSP00000349685.2:p.Arg2441=
ENST00000358544.7:c.7398A>G MANE Plus Clinical	ENSP00000351346.2:p.Arg2466=
ENST00000357162.6:c.7323A>G	ENSP00000349685.2:p.Arg2441=
ENST00000358544.6:c.7398A>G	ENSP00000351346.2:p.Arg2466=
ENST00000518569.1:n.378-1832A>G
NM_017890.4:c.7398A>G , LRG_351t1:c.7398A>G	NP_060360.3:p.Arg2466=
NM_152564.4:c.7323A>G , LRG_351t2:c.7323A>G	NP_689777.3:p.Arg2441=
XM_005250800.2:c.7398A>G	XP_005250857.1:p.Arg2466=
XM_005250801.3:c.7398A>G	XP_005250858.1:p.Arg2466=
XM_011516848.1:c.7395A>G	XP_011515150.1:p.Arg2465=
XM_011516849.1:c.7320A>G	XP_011515151.1:p.Arg2440=
XM_011516850.1:c.7020A>G	XP_011515152.1:p.Arg2340=
XM_011516851.1:c.4284A>G	XP_011515153.1:p.Arg1428=
XM_011516852.1:c.4284A>G	XP_011515154.1:p.Arg1428=
XM_011516853.1:c.7398A>G	XP_011515155.1:p.Arg2466=
XM_011516854.1:c.3177A>G	XP_011515156.1:p.Arg1059=
XR_928446.1:n.1830+5628T>C
XM_005250800.3:c.7398A>G	XP_005250857.1:p.Arg2466=
XM_005250801.5:c.7398A>G	XP_005250858.1:p.Arg2466=
XM_011516848.2:c.7395A>G	XP_011515150.1:p.Arg2465=
XM_011516849.2:c.7320A>G	XP_011515151.1:p.Arg2440=
XM_011516850.2:c.7020A>G	XP_011515152.1:p.Arg2340=
XM_011516851.2:c.4284A>G	XP_011515153.1:p.Arg1428=
XM_011516852.2:c.4284A>G	XP_011515154.1:p.Arg1428=
XM_011516853.2:c.7398A>G	XP_011515155.1:p.Arg2466=
XM_011516854.2:c.3177A>G	XP_011515156.1:p.Arg1059=
XM_017013109.1:c.7203A>G	XP_016868598.1:p.Arg2401=
XM_017013111.1:c.4284A>G	XP_016868600.1:p.Arg1428=
XM_017013112.1:c.2955A>G	XP_016868601.1:p.Arg985=
XM_024447074.1:c.6183A>G	XP_024302842.1:p.Arg2061=
NM_017890.5:c.7398A>G MANE Plus Clinical	NP_060360.3:p.Arg2466=
NM_152564.5:c.7323A>G MANE Select	NP_689777.3:p.Arg2441=