Canonical Allele Identifier: CA462338025
Gene: VPS13B HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.100874008C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99861780C>G , CM000670.2:g.99861780C>G GRCh38
NC_000008.10:g.100874008C>G , CM000670.1:g.100874008C>G GRCh37
NC_000008.9:g.100943184C>G NCBI36
NG_007098.2:g.853515C>G , LRG_351:g.853515C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.*218C>G ENSP00000507923.1:n.*218C>G
ENST00000682358.1:n.11194C>G
ENST00000683334.1:c.*6806C>G ENSP00000507369.1:n.*6806C>G
ENST00000357162.7:c.11049C>G MANE Select ENSP00000349685.2:p.Thr3683=
ENST00000358544.7:c.11124C>G MANE Plus Clinical ENSP00000351346.2:p.Thr3708=
ENST00000357162.6:c.11049C>G ENSP00000349685.2:p.Thr3683=
ENST00000358544.6:c.11124C>G ENSP00000351346.2:p.Thr3708=
NM_017890.4:c.11124C>G , LRG_351t1:c.11124C>G NP_060360.3:p.Thr3708=
NM_152564.4:c.11049C>G , LRG_351t2:c.11049C>G NP_689777.3:p.Thr3683=
XM_005250800.2:c.11124C>G XP_005250857.1:p.Thr3708=
XM_005250801.3:c.11124C>G XP_005250858.1:p.Thr3708=
XM_011516848.1:c.11121C>G XP_011515150.1:p.Thr3707=
XM_011516849.1:c.11046C>G XP_011515151.1:p.Thr3682=
XM_011516850.1:c.10746C>G XP_011515152.1:p.Thr3582=
XM_011516851.1:c.8010C>G XP_011515153.1:p.Thr2670=
XM_011516852.1:c.8010C>G XP_011515154.1:p.Thr2670=
XM_011516854.1:c.6903C>G XP_011515156.1:p.Thr2301=
XM_005250800.3:c.11124C>G XP_005250857.1:p.Thr3708=
XM_005250801.5:c.11124C>G XP_005250858.1:p.Thr3708=
XM_011516848.2:c.11121C>G XP_011515150.1:p.Thr3707=
XM_011516849.2:c.11046C>G XP_011515151.1:p.Thr3682=
XM_011516850.2:c.10746C>G XP_011515152.1:p.Thr3582=
XM_011516851.2:c.8010C>G XP_011515153.1:p.Thr2670=
XM_011516852.2:c.8010C>G XP_011515154.1:p.Thr2670=
XM_011516854.2:c.6903C>G XP_011515156.1:p.Thr2301=
XM_017013109.1:c.10929C>G XP_016868598.1:p.Thr3643=
XM_017013111.1:c.8010C>G XP_016868600.1:p.Thr2670=
XM_017013112.1:c.6681C>G XP_016868601.1:p.Thr2227=
XM_024447074.1:c.9909C>G XP_024302842.1:p.Thr3303=
NM_017890.5:c.11124C>G MANE Plus Clinical NP_060360.3:p.Thr3708=
NM_152564.5:c.11049C>G MANE Select NP_689777.3:p.Thr3683=