Canonical Allele Identifier: CA371792545

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 2164846
• ClinVar RCV Id: RCV003082312
• COSMIC: COSM5408446 ; COSM5408447
• MyVariant Identifiers: chr8:g.100880693G>A (hg19) ; chr8:g.99868465G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868465G>A , CM000670.2:g.99868465G>A	GRCh38
NC_000008.10:g.100880693G>A , CM000670.1:g.100880693G>A	GRCh37
NC_000008.9:g.100949869G>A	NCBI36
NG_007098.2:g.860200G>A , LRG_351:g.860200G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*561G>A	ENSP00000507923.1:n.*561G>A
ENST00000682358.1:n.11537G>A
ENST00000683334.1:c.*7149G>A	ENSP00000507369.1:n.*7149G>A
ENST00000357162.7:c.11392G>A MANE Select	ENSP00000349685.2:p.Gly3798Ser
ENST00000358544.7:c.11467G>A MANE Plus Clinical	ENSP00000351346.2:p.Gly3823Ser
ENST00000357162.6:c.11392G>A	ENSP00000349685.2:p.Gly3798Ser
ENST00000358544.6:c.11467G>A	ENSP00000351346.2:p.Gly3823Ser
ENST00000493587.1:n.409G>A
NM_017890.4:c.11467G>A , LRG_351t1:c.11467G>A	NP_060360.3:p.Gly3823Ser
NM_152564.4:c.11392G>A , LRG_351t2:c.11392G>A	NP_689777.3:p.Gly3798Ser
XM_005250800.2:c.11467G>A	XP_005250857.1:p.Gly3823Ser
XM_005250801.3:c.11467G>A	XP_005250858.1:p.Gly3823Ser
XM_011516848.1:c.11464G>A	XP_011515150.1:p.Gly3822Ser
XM_011516849.1:c.11389G>A	XP_011515151.1:p.Gly3797Ser
XM_011516850.1:c.11089G>A	XP_011515152.1:p.Gly3697Ser
XM_011516851.1:c.8353G>A	XP_011515153.1:p.Gly2785Ser
XM_011516852.1:c.8353G>A	XP_011515154.1:p.Gly2785Ser
XM_011516854.1:c.7246G>A	XP_011515156.1:p.Gly2416Ser
XM_005250800.3:c.11467G>A	XP_005250857.1:p.Gly3823Ser
XM_005250801.5:c.11467G>A	XP_005250858.1:p.Gly3823Ser
XM_011516848.2:c.11464G>A	XP_011515150.1:p.Gly3822Ser
XM_011516849.2:c.11389G>A	XP_011515151.1:p.Gly3797Ser
XM_011516850.2:c.11089G>A	XP_011515152.1:p.Gly3697Ser
XM_011516851.2:c.8353G>A	XP_011515153.1:p.Gly2785Ser
XM_011516852.2:c.8353G>A	XP_011515154.1:p.Gly2785Ser
XM_011516854.2:c.7246G>A	XP_011515156.1:p.Gly2416Ser
XM_017013109.1:c.11272G>A	XP_016868598.1:p.Gly3758Ser
XM_017013111.1:c.8353G>A	XP_016868600.1:p.Gly2785Ser
XM_017013112.1:c.7024G>A	XP_016868601.1:p.Gly2342Ser
XM_024447074.1:c.10252G>A	XP_024302842.1:p.Gly3418Ser
NM_017890.5:c.11467G>A MANE Plus Clinical	NP_060360.3:p.Gly3823Ser
NM_152564.5:c.11392G>A MANE Select	NP_689777.3:p.Gly3798Ser