Canonical Allele Identifier: CA371792066

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1052994
• ClinVar RCV Id: RCV001361276
• dbSNP Id: rs1375551293
• gnomAD v2: 8-100880606-G-A
• gnomAD v4: 8-99868378-G-A
• MyVariant Identifiers: chr8:g.100880606G>A (hg19) ; chr8:g.99868378G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868378G>A , CM000670.2:g.99868378G>A	GRCh38
NC_000008.10:g.100880606G>A , CM000670.1:g.100880606G>A	GRCh37
NC_000008.9:g.100949782G>A	NCBI36
NG_007098.2:g.860113G>A , LRG_351:g.860113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*474G>A	ENSP00000507923.1:n.*474G>A
ENST00000682358.1:n.11450G>A
ENST00000683334.1:c.*7062G>A	ENSP00000507369.1:n.*7062G>A
ENST00000357162.7:c.11305G>A MANE Select	ENSP00000349685.2:p.Val3769Ile
ENST00000358544.7:c.11380G>A MANE Plus Clinical	ENSP00000351346.2:p.Val3794Ile
ENST00000357162.6:c.11305G>A	ENSP00000349685.2:p.Val3769Ile
ENST00000358544.6:c.11380G>A	ENSP00000351346.2:p.Val3794Ile
ENST00000493587.1:n.322G>A
NM_017890.4:c.11380G>A , LRG_351t1:c.11380G>A	NP_060360.3:p.Val3794Ile
NM_152564.4:c.11305G>A , LRG_351t2:c.11305G>A	NP_689777.3:p.Val3769Ile
XM_005250800.2:c.11380G>A	XP_005250857.1:p.Val3794Ile
XM_005250801.3:c.11380G>A	XP_005250858.1:p.Val3794Ile
XM_011516848.1:c.11377G>A	XP_011515150.1:p.Val3793Ile
XM_011516849.1:c.11302G>A	XP_011515151.1:p.Val3768Ile
XM_011516850.1:c.11002G>A	XP_011515152.1:p.Val3668Ile
XM_011516851.1:c.8266G>A	XP_011515153.1:p.Val2756Ile
XM_011516852.1:c.8266G>A	XP_011515154.1:p.Val2756Ile
XM_011516854.1:c.7159G>A	XP_011515156.1:p.Val2387Ile
XM_005250800.3:c.11380G>A	XP_005250857.1:p.Val3794Ile
XM_005250801.5:c.11380G>A	XP_005250858.1:p.Val3794Ile
XM_011516848.2:c.11377G>A	XP_011515150.1:p.Val3793Ile
XM_011516849.2:c.11302G>A	XP_011515151.1:p.Val3768Ile
XM_011516850.2:c.11002G>A	XP_011515152.1:p.Val3668Ile
XM_011516851.2:c.8266G>A	XP_011515153.1:p.Val2756Ile
XM_011516852.2:c.8266G>A	XP_011515154.1:p.Val2756Ile
XM_011516854.2:c.7159G>A	XP_011515156.1:p.Val2387Ile
XM_017013109.1:c.11185G>A	XP_016868598.1:p.Val3729Ile
XM_017013111.1:c.8266G>A	XP_016868600.1:p.Val2756Ile
XM_017013112.1:c.6937G>A	XP_016868601.1:p.Val2313Ile
XM_024447074.1:c.10165G>A	XP_024302842.1:p.Val3389Ile
NM_017890.5:c.11380G>A MANE Plus Clinical	NP_060360.3:p.Val3794Ile
NM_152564.5:c.11305G>A MANE Select	NP_689777.3:p.Val3769Ile