Canonical Allele Identifier: CA462339090
Gene: VPS13B HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.100880521A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99868293A>C , CM000670.2:g.99868293A>C GRCh38
NC_000008.10:g.100880521A>C , CM000670.1:g.100880521A>C GRCh37
NC_000008.9:g.100949697A>C NCBI36
NG_007098.2:g.860028A>C , LRG_351:g.860028A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.*389A>C ENSP00000507923.1:n.*389A>C
ENST00000682358.1:n.11365A>C
ENST00000683334.1:c.*6977A>C ENSP00000507369.1:n.*6977A>C
ENST00000357162.7:c.11220A>C MANE Select ENSP00000349685.2:p.Ala3740=
ENST00000358544.7:c.11295A>C MANE Plus Clinical ENSP00000351346.2:p.Ala3765=
ENST00000357162.6:c.11220A>C ENSP00000349685.2:p.Ala3740=
ENST00000358544.6:c.11295A>C ENSP00000351346.2:p.Ala3765=
ENST00000493587.1:n.237A>C
NM_017890.4:c.11295A>C , LRG_351t1:c.11295A>C NP_060360.3:p.Ala3765=
NM_152564.4:c.11220A>C , LRG_351t2:c.11220A>C NP_689777.3:p.Ala3740=
XM_005250800.2:c.11295A>C XP_005250857.1:p.Ala3765=
XM_005250801.3:c.11295A>C XP_005250858.1:p.Ala3765=
XM_011516848.1:c.11292A>C XP_011515150.1:p.Ala3764=
XM_011516849.1:c.11217A>C XP_011515151.1:p.Ala3739=
XM_011516850.1:c.10917A>C XP_011515152.1:p.Ala3639=
XM_011516851.1:c.8181A>C XP_011515153.1:p.Ala2727=
XM_011516852.1:c.8181A>C XP_011515154.1:p.Ala2727=
XM_011516854.1:c.7074A>C XP_011515156.1:p.Ala2358=
XM_005250800.3:c.11295A>C XP_005250857.1:p.Ala3765=
XM_005250801.5:c.11295A>C XP_005250858.1:p.Ala3765=
XM_011516848.2:c.11292A>C XP_011515150.1:p.Ala3764=
XM_011516849.2:c.11217A>C XP_011515151.1:p.Ala3739=
XM_011516850.2:c.10917A>C XP_011515152.1:p.Ala3639=
XM_011516851.2:c.8181A>C XP_011515153.1:p.Ala2727=
XM_011516852.2:c.8181A>C XP_011515154.1:p.Ala2727=
XM_011516854.2:c.7074A>C XP_011515156.1:p.Ala2358=
XM_017013109.1:c.11100A>C XP_016868598.1:p.Ala3700=
XM_017013111.1:c.8181A>C XP_016868600.1:p.Ala2727=
XM_017013112.1:c.6852A>C XP_016868601.1:p.Ala2284=
XM_024447074.1:c.10080A>C XP_024302842.1:p.Ala3360=
NM_017890.5:c.11295A>C MANE Plus Clinical NP_060360.3:p.Ala3765=
NM_152564.5:c.11220A>C MANE Select NP_689777.3:p.Ala3740=