Canonical Allele Identifier: CA371872546

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1315327
• ClinVar RCV Id: RCV001774577 ; RCV003772054
• dbSNP Id: rs2133931748
• gnomAD v4: 8-99642026-T-G
• MyVariant Identifiers: chr8:g.100654254T>G (hg19) ; chr8:g.99642026T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99642026T>G , CM000670.2:g.99642026T>G	GRCh38
NC_000008.10:g.100654254T>G , CM000670.1:g.100654254T>G	GRCh37
NC_000008.9:g.100723430T>G	NCBI36
NG_007098.2:g.633761T>G , LRG_351:g.633761T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.5511T>G	ENSP00000507923.1:p.Phe1837Leu
ENST00000682358.1:n.5581T>G
ENST00000683334.1:c.*1193T>G	ENSP00000507369.1:n.*1193T>G
ENST00000357162.7:c.5436T>G MANE Select	ENSP00000349685.2:p.Phe1812Leu
ENST00000358544.7:c.5511T>G MANE Plus Clinical	ENSP00000351346.2:p.Phe1837Leu
ENST00000357162.6:c.5436T>G	ENSP00000349685.2:p.Phe1812Leu
ENST00000358544.6:c.5511T>G	ENSP00000351346.2:p.Phe1837Leu
NM_017890.4:c.5511T>G , LRG_351t1:c.5511T>G	NP_060360.3:p.Phe1837Leu
NM_152564.4:c.5436T>G , LRG_351t2:c.5436T>G	NP_689777.3:p.Phe1812Leu
XM_005250800.2:c.5511T>G	XP_005250857.1:p.Phe1837Leu
XM_005250801.3:c.5511T>G	XP_005250858.1:p.Phe1837Leu
XM_011516848.1:c.5508T>G	XP_011515150.1:p.Phe1836Leu
XM_011516849.1:c.5433T>G	XP_011515151.1:p.Phe1811Leu
XM_011516850.1:c.5133T>G	XP_011515152.1:p.Phe1711Leu
XM_011516851.1:c.2397T>G	XP_011515153.1:p.Phe799Leu
XM_011516852.1:c.2397T>G	XP_011515154.1:p.Phe799Leu
XM_011516853.1:c.5511T>G	XP_011515155.1:p.Phe1837Leu
XM_011516854.1:c.1290T>G	XP_011515156.1:p.Phe430Leu
XM_005250800.3:c.5511T>G	XP_005250857.1:p.Phe1837Leu
XM_005250801.5:c.5511T>G	XP_005250858.1:p.Phe1837Leu
XM_011516848.2:c.5508T>G	XP_011515150.1:p.Phe1836Leu
XM_011516849.2:c.5433T>G	XP_011515151.1:p.Phe1811Leu
XM_011516850.2:c.5133T>G	XP_011515152.1:p.Phe1711Leu
XM_011516851.2:c.2397T>G	XP_011515153.1:p.Phe799Leu
XM_011516852.2:c.2397T>G	XP_011515154.1:p.Phe799Leu
XM_011516853.2:c.5511T>G	XP_011515155.1:p.Phe1837Leu
XM_011516854.2:c.1290T>G	XP_011515156.1:p.Phe430Leu
XM_017013109.1:c.5316T>G	XP_016868598.1:p.Phe1772Leu
XM_017013111.1:c.2397T>G	XP_016868600.1:p.Phe799Leu
XM_017013112.1:c.1068T>G	XP_016868601.1:p.Phe356Leu
XM_024447074.1:c.4296T>G	XP_024302842.1:p.Phe1432Leu
XR_001745482.2:n.5472T>G
NM_017890.5:c.5511T>G MANE Plus Clinical	NP_060360.3:p.Phe1837Leu
NM_152564.5:c.5436T>G MANE Select	NP_689777.3:p.Phe1812Leu