Canonical Allele Identifier: CA371875823

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100789140A>G (hg19) ; chr8:g.99776912A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776912A>G , CM000670.2:g.99776912A>G	GRCh38
NC_000008.10:g.100789140A>G , CM000670.1:g.100789140A>G	GRCh37
NC_000008.9:g.100858316A>G	NCBI36
NG_007098.2:g.768647A>G , LRG_351:g.768647A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7460A>G	ENSP00000507923.1:p.His2487Arg
ENST00000682358.1:n.7530A>G
ENST00000683334.1:c.*3142A>G	ENSP00000507369.1:n.*3142A>G
ENST00000357162.7:c.7385A>G MANE Select	ENSP00000349685.2:p.His2462Arg
ENST00000358544.7:c.7460A>G MANE Plus Clinical	ENSP00000351346.2:p.His2487Arg
ENST00000357162.6:c.7385A>G	ENSP00000349685.2:p.His2462Arg
ENST00000358544.6:c.7460A>G	ENSP00000351346.2:p.His2487Arg
ENST00000518569.1:n.378-1770A>G
NM_017890.4:c.7460A>G , LRG_351t1:c.7460A>G	NP_060360.3:p.His2487Arg
NM_152564.4:c.7385A>G , LRG_351t2:c.7385A>G	NP_689777.3:p.His2462Arg
XM_005250800.2:c.7460A>G	XP_005250857.1:p.His2487Arg
XM_005250801.3:c.7460A>G	XP_005250858.1:p.His2487Arg
XM_011516848.1:c.7457A>G	XP_011515150.1:p.His2486Arg
XM_011516849.1:c.7382A>G	XP_011515151.1:p.His2461Arg
XM_011516850.1:c.7082A>G	XP_011515152.1:p.His2361Arg
XM_011516851.1:c.4346A>G	XP_011515153.1:p.His1449Arg
XM_011516852.1:c.4346A>G	XP_011515154.1:p.His1449Arg
XM_011516853.1:c.7460A>G	XP_011515155.1:p.His2487Arg
XM_011516854.1:c.3239A>G	XP_011515156.1:p.His1080Arg
XR_928446.1:n.1830+5566T>C
XM_005250800.3:c.7460A>G	XP_005250857.1:p.His2487Arg
XM_005250801.5:c.7460A>G	XP_005250858.1:p.His2487Arg
XM_011516848.2:c.7457A>G	XP_011515150.1:p.His2486Arg
XM_011516849.2:c.7382A>G	XP_011515151.1:p.His2461Arg
XM_011516850.2:c.7082A>G	XP_011515152.1:p.His2361Arg
XM_011516851.2:c.4346A>G	XP_011515153.1:p.His1449Arg
XM_011516852.2:c.4346A>G	XP_011515154.1:p.His1449Arg
XM_011516853.2:c.7460A>G	XP_011515155.1:p.His2487Arg
XM_011516854.2:c.3239A>G	XP_011515156.1:p.His1080Arg
XM_017013109.1:c.7265A>G	XP_016868598.1:p.His2422Arg
XM_017013111.1:c.4346A>G	XP_016868600.1:p.His1449Arg
XM_017013112.1:c.3017A>G	XP_016868601.1:p.His1006Arg
XM_024447074.1:c.6245A>G	XP_024302842.1:p.His2082Arg
NM_017890.5:c.7460A>G MANE Plus Clinical	NP_060360.3:p.His2487Arg
NM_152564.5:c.7385A>G MANE Select	NP_689777.3:p.His2462Arg