Canonical Allele Identifier: CA371773671

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100830709G>A (hg19) ; chr8:g.99818481G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99818481G>A , CM000670.2:g.99818481G>A	GRCh38
NC_000008.10:g.100830709G>A , CM000670.1:g.100830709G>A	GRCh37
NC_000008.9:g.100899885G>A	NCBI36
NG_007098.2:g.810216G>A , LRG_351:g.810216G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.8467G>A	ENSP00000507923.1:p.Val2823Ile
ENST00000682358.1:n.8537G>A
ENST00000683334.1:c.*4149G>A	ENSP00000507369.1:n.*4149G>A
ENST00000357162.7:c.8392G>A MANE Select	ENSP00000349685.2:p.Val2798Ile
ENST00000358544.7:c.8467G>A MANE Plus Clinical	ENSP00000351346.2:p.Val2823Ile
ENST00000357162.6:c.8392G>A	ENSP00000349685.2:p.Val2798Ile
ENST00000358544.6:c.8467G>A	ENSP00000351346.2:p.Val2823Ile
NM_017890.4:c.8467G>A , LRG_351t1:c.8467G>A	NP_060360.3:p.Val2823Ile
NM_152564.4:c.8392G>A , LRG_351t2:c.8392G>A	NP_689777.3:p.Val2798Ile
XM_005250800.2:c.8467G>A	XP_005250857.1:p.Val2823Ile
XM_005250801.3:c.8467G>A	XP_005250858.1:p.Val2823Ile
XM_011516848.1:c.8464G>A	XP_011515150.1:p.Val2822Ile
XM_011516849.1:c.8389G>A	XP_011515151.1:p.Val2797Ile
XM_011516850.1:c.8089G>A	XP_011515152.1:p.Val2697Ile
XM_011516851.1:c.5353G>A	XP_011515153.1:p.Val1785Ile
XM_011516852.1:c.5353G>A	XP_011515154.1:p.Val1785Ile
XM_011516854.1:c.4246G>A	XP_011515156.1:p.Val1416Ile
XM_005250800.3:c.8467G>A	XP_005250857.1:p.Val2823Ile
XM_005250801.5:c.8467G>A	XP_005250858.1:p.Val2823Ile
XM_011516848.2:c.8464G>A	XP_011515150.1:p.Val2822Ile
XM_011516849.2:c.8389G>A	XP_011515151.1:p.Val2797Ile
XM_011516850.2:c.8089G>A	XP_011515152.1:p.Val2697Ile
XM_011516851.2:c.5353G>A	XP_011515153.1:p.Val1785Ile
XM_011516852.2:c.5353G>A	XP_011515154.1:p.Val1785Ile
XM_011516854.2:c.4246G>A	XP_011515156.1:p.Val1416Ile
XM_017013109.1:c.8272G>A	XP_016868598.1:p.Val2758Ile
XM_017013111.1:c.5353G>A	XP_016868600.1:p.Val1785Ile
XM_017013112.1:c.4024G>A	XP_016868601.1:p.Val1342Ile
XM_024447074.1:c.7252G>A	XP_024302842.1:p.Val2418Ile
NM_017890.5:c.8467G>A MANE Plus Clinical	NP_060360.3:p.Val2823Ile
NM_152564.5:c.8392G>A MANE Select	NP_689777.3:p.Val2798Ile