Canonical Allele Identifier: CA4823933

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 642509
• ClinVar RCV Id: RCV000795987 ; RCV003955509
• dbSNP Id: rs199837195
• ExAC: 8:100711753 C / T
• gnomAD v2: 8-100711753-C-T
• gnomAD v3: 8-99699525-C-T
• gnomAD v4: 8-99699525-C-T
• COSMIC: COSM3268458 ; COSM3268459
• MyVariant Identifiers: chr8:g.100711753C>T (hg19) ; chr8:g.99699525C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99699525C>T , CM000670.2:g.99699525C>T	GRCh38
NC_000008.10:g.100711753C>T , CM000670.1:g.100711753C>T	GRCh37
NC_000008.9:g.100780929C>T	NCBI36
NG_007098.2:g.691260C>T , LRG_351:g.691260C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6122C>T	ENSP00000507923.1:p.Ala2041Val
ENST00000682358.1:n.6192C>T
ENST00000683334.1:c.*1804C>T	ENSP00000507369.1:n.*1804C>T
ENST00000357162.7:c.6047C>T MANE Select	ENSP00000349685.2:p.Ala2016Val
ENST00000358544.7:c.6122C>T MANE Plus Clinical	ENSP00000351346.2:p.Ala2041Val
ENST00000357162.6:c.6047C>T	ENSP00000349685.2:p.Ala2016Val
ENST00000358544.6:c.6122C>T	ENSP00000351346.2:p.Ala2041Val
NM_017890.4:c.6122C>T , LRG_351t1:c.6122C>T	NP_060360.3:p.Ala2041Val
NM_152564.4:c.6047C>T , LRG_351t2:c.6047C>T	NP_689777.3:p.Ala2016Val
XM_005250800.2:c.6122C>T	XP_005250857.1:p.Ala2041Val
XM_005250801.3:c.6122C>T	XP_005250858.1:p.Ala2041Val
XM_011516848.1:c.6119C>T	XP_011515150.1:p.Ala2040Val
XM_011516849.1:c.6044C>T	XP_011515151.1:p.Ala2015Val
XM_011516850.1:c.5744C>T	XP_011515152.1:p.Ala1915Val
XM_011516851.1:c.3008C>T	XP_011515153.1:p.Ala1003Val
XM_011516852.1:c.3008C>T	XP_011515154.1:p.Ala1003Val
XM_011516853.1:c.6122C>T	XP_011515155.1:p.Ala2041Val
XM_011516854.1:c.1901C>T	XP_011515156.1:p.Ala634Val
XM_005250800.3:c.6122C>T	XP_005250857.1:p.Ala2041Val
XM_005250801.5:c.6122C>T	XP_005250858.1:p.Ala2041Val
XM_011516848.2:c.6119C>T	XP_011515150.1:p.Ala2040Val
XM_011516849.2:c.6044C>T	XP_011515151.1:p.Ala2015Val
XM_011516850.2:c.5744C>T	XP_011515152.1:p.Ala1915Val
XM_011516851.2:c.3008C>T	XP_011515153.1:p.Ala1003Val
XM_011516852.2:c.3008C>T	XP_011515154.1:p.Ala1003Val
XM_011516853.2:c.6122C>T	XP_011515155.1:p.Ala2041Val
XM_011516854.2:c.1901C>T	XP_011515156.1:p.Ala634Val
XM_017013109.1:c.5927C>T	XP_016868598.1:p.Ala1976Val
XM_017013111.1:c.3008C>T	XP_016868600.1:p.Ala1003Val
XM_017013112.1:c.1679C>T	XP_016868601.1:p.Ala560Val
XM_024447074.1:c.4907C>T	XP_024302842.1:p.Ala1636Val
XR_001745482.2:n.6083C>T
NM_017890.5:c.6122C>T MANE Plus Clinical	NP_060360.3:p.Ala2041Val
NM_152564.5:c.6047C>T MANE Select	NP_689777.3:p.Ala2016Val