Canonical Allele Identifier: CA182328697

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1713783
• ClinVar RCV Id: RCV002295571
• dbSNP Id: rs990005107
• COSMIC: COSM255882 ; COSM255883
• MyVariant Identifiers: chr8:g.100880661G>A (hg19) ; chr8:g.99868433G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868433G>A , CM000670.2:g.99868433G>A	GRCh38
NC_000008.10:g.100880661G>A , CM000670.1:g.100880661G>A	GRCh37
NC_000008.9:g.100949837G>A	NCBI36
NG_007098.2:g.860168G>A , LRG_351:g.860168G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*529G>A	ENSP00000507923.1:n.*529G>A
ENST00000682358.1:n.11505G>A
ENST00000683334.1:c.*7117G>A	ENSP00000507369.1:n.*7117G>A
ENST00000357162.7:c.11360G>A MANE Select	ENSP00000349685.2:p.Gly3787Glu
ENST00000358544.7:c.11435G>A MANE Plus Clinical	ENSP00000351346.2:p.Gly3812Glu
ENST00000357162.6:c.11360G>A	ENSP00000349685.2:p.Gly3787Glu
ENST00000358544.6:c.11435G>A	ENSP00000351346.2:p.Gly3812Glu
ENST00000493587.1:n.377G>A
NM_017890.4:c.11435G>A , LRG_351t1:c.11435G>A	NP_060360.3:p.Gly3812Glu
NM_152564.4:c.11360G>A , LRG_351t2:c.11360G>A	NP_689777.3:p.Gly3787Glu
XM_005250800.2:c.11435G>A	XP_005250857.1:p.Gly3812Glu
XM_005250801.3:c.11435G>A	XP_005250858.1:p.Gly3812Glu
XM_011516848.1:c.11432G>A	XP_011515150.1:p.Gly3811Glu
XM_011516849.1:c.11357G>A	XP_011515151.1:p.Gly3786Glu
XM_011516850.1:c.11057G>A	XP_011515152.1:p.Gly3686Glu
XM_011516851.1:c.8321G>A	XP_011515153.1:p.Gly2774Glu
XM_011516852.1:c.8321G>A	XP_011515154.1:p.Gly2774Glu
XM_011516854.1:c.7214G>A	XP_011515156.1:p.Gly2405Glu
XM_005250800.3:c.11435G>A	XP_005250857.1:p.Gly3812Glu
XM_005250801.5:c.11435G>A	XP_005250858.1:p.Gly3812Glu
XM_011516848.2:c.11432G>A	XP_011515150.1:p.Gly3811Glu
XM_011516849.2:c.11357G>A	XP_011515151.1:p.Gly3786Glu
XM_011516850.2:c.11057G>A	XP_011515152.1:p.Gly3686Glu
XM_011516851.2:c.8321G>A	XP_011515153.1:p.Gly2774Glu
XM_011516852.2:c.8321G>A	XP_011515154.1:p.Gly2774Glu
XM_011516854.2:c.7214G>A	XP_011515156.1:p.Gly2405Glu
XM_017013109.1:c.11240G>A	XP_016868598.1:p.Gly3747Glu
XM_017013111.1:c.8321G>A	XP_016868600.1:p.Gly2774Glu
XM_017013112.1:c.6992G>A	XP_016868601.1:p.Gly2331Glu
XM_024447074.1:c.10220G>A	XP_024302842.1:p.Gly3407Glu
NM_017890.5:c.11435G>A MANE Plus Clinical	NP_060360.3:p.Gly3812Glu
NM_152564.5:c.11360G>A MANE Select	NP_689777.3:p.Gly3787Glu