Canonical Allele Identifier: CA182328763

Gene: VPS13B

Linked Data

• dbSNP Id: rs913650107
• gnomAD v4: 8-99819561-A-G
• MyVariant Identifiers: chr8:g.100831789A>G (hg19) ; chr8:g.99819561A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99819561A>G , CM000670.2:g.99819561A>G	GRCh38
NC_000008.10:g.100831789A>G , CM000670.1:g.100831789A>G	GRCh37
NC_000008.9:g.100900965A>G	NCBI36
NG_007098.2:g.811296A>G , LRG_351:g.811296A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8846A>G	ENSP00000507923.1:p.Tyr2949Cys
ENST00000682358.1:n.8916A>G
ENST00000683334.1:c.*4528A>G	ENSP00000507369.1:n.*4528A>G
ENST00000357162.7:c.8771A>G MANE Select	ENSP00000349685.2:p.Tyr2924Cys
ENST00000358544.7:c.8846A>G MANE Plus Clinical	ENSP00000351346.2:p.Tyr2949Cys
ENST00000357162.6:c.8771A>G	ENSP00000349685.2:p.Tyr2924Cys
ENST00000358544.6:c.8846A>G	ENSP00000351346.2:p.Tyr2949Cys
NM_017890.4:c.8846A>G , LRG_351t1:c.8846A>G	NP_060360.3:p.Tyr2949Cys
NM_152564.4:c.8771A>G , LRG_351t2:c.8771A>G	NP_689777.3:p.Tyr2924Cys
XM_005250800.2:c.8846A>G	XP_005250857.1:p.Tyr2949Cys
XM_005250801.3:c.8846A>G	XP_005250858.1:p.Tyr2949Cys
XM_011516848.1:c.8843A>G	XP_011515150.1:p.Tyr2948Cys
XM_011516849.1:c.8768A>G	XP_011515151.1:p.Tyr2923Cys
XM_011516850.1:c.8468A>G	XP_011515152.1:p.Tyr2823Cys
XM_011516851.1:c.5732A>G	XP_011515153.1:p.Tyr1911Cys
XM_011516852.1:c.5732A>G	XP_011515154.1:p.Tyr1911Cys
XM_011516854.1:c.4625A>G	XP_011515156.1:p.Tyr1542Cys
XM_005250800.3:c.8846A>G	XP_005250857.1:p.Tyr2949Cys
XM_005250801.5:c.8846A>G	XP_005250858.1:p.Tyr2949Cys
XM_011516848.2:c.8843A>G	XP_011515150.1:p.Tyr2948Cys
XM_011516849.2:c.8768A>G	XP_011515151.1:p.Tyr2923Cys
XM_011516850.2:c.8468A>G	XP_011515152.1:p.Tyr2823Cys
XM_011516851.2:c.5732A>G	XP_011515153.1:p.Tyr1911Cys
XM_011516852.2:c.5732A>G	XP_011515154.1:p.Tyr1911Cys
XM_011516854.2:c.4625A>G	XP_011515156.1:p.Tyr1542Cys
XM_017013109.1:c.8651A>G	XP_016868598.1:p.Tyr2884Cys
XM_017013111.1:c.5732A>G	XP_016868600.1:p.Tyr1911Cys
XM_017013112.1:c.4403A>G	XP_016868601.1:p.Tyr1468Cys
XM_024447074.1:c.7631A>G	XP_024302842.1:p.Tyr2544Cys
NM_017890.5:c.8846A>G MANE Plus Clinical	NP_060360.3:p.Tyr2949Cys
NM_152564.5:c.8771A>G MANE Select	NP_689777.3:p.Tyr2924Cys