Canonical Allele Identifier: CA183039786

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1094455
• ClinVar RCV Id: RCV001415002
• dbSNP Id: rs928101727
• gnomAD v2: 8-100779139-A-G
• gnomAD v3: 8-99766911-A-G
• gnomAD v4: 8-99766911-A-G
• COSMIC: COSM5459329 ; COSM5459330
• MyVariant Identifiers: chr8:g.100779139A>G (hg19) ; chr8:g.99766911A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99766911A>G , CM000670.2:g.99766911A>G	GRCh38
NC_000008.10:g.100779139A>G , CM000670.1:g.100779139A>G	GRCh37
NC_000008.9:g.100848315A>G	NCBI36
NG_007098.2:g.758646A>G , LRG_351:g.758646A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7263A>G	ENSP00000507923.1:p.Val2421=
ENST00000682358.1:n.7333A>G
ENST00000683334.1:c.*2945A>G	ENSP00000507369.1:n.*2945A>G
ENST00000357162.7:c.7188A>G MANE Select	ENSP00000349685.2:p.Val2396=
ENST00000358544.7:c.7263A>G MANE Plus Clinical	ENSP00000351346.2:p.Val2421=
ENST00000357162.6:c.7188A>G	ENSP00000349685.2:p.Val2396=
ENST00000358544.6:c.7263A>G	ENSP00000351346.2:p.Val2421=
ENST00000518569.1:n.318A>G
NM_017890.4:c.7263A>G , LRG_351t1:c.7263A>G	NP_060360.3:p.Val2421=
NM_152564.4:c.7188A>G , LRG_351t2:c.7188A>G	NP_689777.3:p.Val2396=
XM_005250800.2:c.7263A>G	XP_005250857.1:p.Val2421=
XM_005250801.3:c.7263A>G	XP_005250858.1:p.Val2421=
XM_011516848.1:c.7260A>G	XP_011515150.1:p.Val2420=
XM_011516849.1:c.7185A>G	XP_011515151.1:p.Val2395=
XM_011516850.1:c.6885A>G	XP_011515152.1:p.Val2295=
XM_011516851.1:c.4149A>G	XP_011515153.1:p.Val1383=
XM_011516852.1:c.4149A>G	XP_011515154.1:p.Val1383=
XM_011516853.1:c.7263A>G	XP_011515155.1:p.Val2421=
XM_011516854.1:c.3042A>G	XP_011515156.1:p.Val1014=
XR_928446.1:n.2065+3777T>C
XM_005250800.3:c.7263A>G	XP_005250857.1:p.Val2421=
XM_005250801.5:c.7263A>G	XP_005250858.1:p.Val2421=
XM_011516848.2:c.7260A>G	XP_011515150.1:p.Val2420=
XM_011516849.2:c.7185A>G	XP_011515151.1:p.Val2395=
XM_011516850.2:c.6885A>G	XP_011515152.1:p.Val2295=
XM_011516851.2:c.4149A>G	XP_011515153.1:p.Val1383=
XM_011516852.2:c.4149A>G	XP_011515154.1:p.Val1383=
XM_011516853.2:c.7263A>G	XP_011515155.1:p.Val2421=
XM_011516854.2:c.3042A>G	XP_011515156.1:p.Val1014=
XM_017013109.1:c.7068A>G	XP_016868598.1:p.Val2356=
XM_017013111.1:c.4149A>G	XP_016868600.1:p.Val1383=
XM_017013112.1:c.2820A>G	XP_016868601.1:p.Val940=
XM_024447074.1:c.6048A>G	XP_024302842.1:p.Val2016=
NM_017890.5:c.7263A>G MANE Plus Clinical	NP_060360.3:p.Val2421=
NM_152564.5:c.7188A>G MANE Select	NP_689777.3:p.Val2396=