Canonical Allele Identifier: CA462448615

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100711784G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99699556G>A , CM000670.2:g.99699556G>A	GRCh38
NC_000008.10:g.100711784G>A , CM000670.1:g.100711784G>A	GRCh37
NC_000008.9:g.100780960G>A	NCBI36
NG_007098.2:g.691291G>A , LRG_351:g.691291G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6153G>A	ENSP00000507923.1:p.Leu2051=
ENST00000682358.1:n.6223G>A
ENST00000683334.1:c.*1835G>A	ENSP00000507369.1:n.*1835G>A
ENST00000357162.7:c.6078G>A MANE Select	ENSP00000349685.2:p.Leu2026=
ENST00000358544.7:c.6153G>A MANE Plus Clinical	ENSP00000351346.2:p.Leu2051=
ENST00000357162.6:c.6078G>A	ENSP00000349685.2:p.Leu2026=
ENST00000358544.6:c.6153G>A	ENSP00000351346.2:p.Leu2051=
NM_017890.4:c.6153G>A , LRG_351t1:c.6153G>A	NP_060360.3:p.Leu2051=
NM_152564.4:c.6078G>A , LRG_351t2:c.6078G>A	NP_689777.3:p.Leu2026=
XM_005250800.2:c.6153G>A	XP_005250857.1:p.Leu2051=
XM_005250801.3:c.6153G>A	XP_005250858.1:p.Leu2051=
XM_011516848.1:c.6150G>A	XP_011515150.1:p.Leu2050=
XM_011516849.1:c.6075G>A	XP_011515151.1:p.Leu2025=
XM_011516850.1:c.5775G>A	XP_011515152.1:p.Leu1925=
XM_011516851.1:c.3039G>A	XP_011515153.1:p.Leu1013=
XM_011516852.1:c.3039G>A	XP_011515154.1:p.Leu1013=
XM_011516853.1:c.6153G>A	XP_011515155.1:p.Leu2051=
XM_011516854.1:c.1932G>A	XP_011515156.1:p.Leu644=
XM_005250800.3:c.6153G>A	XP_005250857.1:p.Leu2051=
XM_005250801.5:c.6153G>A	XP_005250858.1:p.Leu2051=
XM_011516848.2:c.6150G>A	XP_011515150.1:p.Leu2050=
XM_011516849.2:c.6075G>A	XP_011515151.1:p.Leu2025=
XM_011516850.2:c.5775G>A	XP_011515152.1:p.Leu1925=
XM_011516851.2:c.3039G>A	XP_011515153.1:p.Leu1013=
XM_011516852.2:c.3039G>A	XP_011515154.1:p.Leu1013=
XM_011516853.2:c.6153G>A	XP_011515155.1:p.Leu2051=
XM_011516854.2:c.1932G>A	XP_011515156.1:p.Leu644=
XM_017013109.1:c.5958G>A	XP_016868598.1:p.Leu1986=
XM_017013111.1:c.3039G>A	XP_016868600.1:p.Leu1013=
XM_017013112.1:c.1710G>A	XP_016868601.1:p.Leu570=
XM_024447074.1:c.4938G>A	XP_024302842.1:p.Leu1646=
NM_017890.5:c.6153G>A MANE Plus Clinical	NP_060360.3:p.Leu2051=
NM_152564.5:c.6078G>A MANE Select	NP_689777.3:p.Leu2026=