Canonical Allele Identifier: CA462339084
Gene: VPS13B HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.100880518T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99868290T>C , CM000670.2:g.99868290T>C GRCh38
NC_000008.10:g.100880518T>C , CM000670.1:g.100880518T>C GRCh37
NC_000008.9:g.100949694T>C NCBI36
NG_007098.2:g.860025T>C , LRG_351:g.860025T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.*386T>C ENSP00000507923.1:n.*386T>C
ENST00000682358.1:n.11362T>C
ENST00000683334.1:c.*6974T>C ENSP00000507369.1:n.*6974T>C
ENST00000357162.7:c.11217T>C MANE Select ENSP00000349685.2:p.Gly3739=
ENST00000358544.7:c.11292T>C MANE Plus Clinical ENSP00000351346.2:p.Gly3764=
ENST00000357162.6:c.11217T>C ENSP00000349685.2:p.Gly3739=
ENST00000358544.6:c.11292T>C ENSP00000351346.2:p.Gly3764=
ENST00000493587.1:n.234T>C
NM_017890.4:c.11292T>C , LRG_351t1:c.11292T>C NP_060360.3:p.Gly3764=
NM_152564.4:c.11217T>C , LRG_351t2:c.11217T>C NP_689777.3:p.Gly3739=
XM_005250800.2:c.11292T>C XP_005250857.1:p.Gly3764=
XM_005250801.3:c.11292T>C XP_005250858.1:p.Gly3764=
XM_011516848.1:c.11289T>C XP_011515150.1:p.Gly3763=
XM_011516849.1:c.11214T>C XP_011515151.1:p.Gly3738=
XM_011516850.1:c.10914T>C XP_011515152.1:p.Gly3638=
XM_011516851.1:c.8178T>C XP_011515153.1:p.Gly2726=
XM_011516852.1:c.8178T>C XP_011515154.1:p.Gly2726=
XM_011516854.1:c.7071T>C XP_011515156.1:p.Gly2357=
XM_005250800.3:c.11292T>C XP_005250857.1:p.Gly3764=
XM_005250801.5:c.11292T>C XP_005250858.1:p.Gly3764=
XM_011516848.2:c.11289T>C XP_011515150.1:p.Gly3763=
XM_011516849.2:c.11214T>C XP_011515151.1:p.Gly3738=
XM_011516850.2:c.10914T>C XP_011515152.1:p.Gly3638=
XM_011516851.2:c.8178T>C XP_011515153.1:p.Gly2726=
XM_011516852.2:c.8178T>C XP_011515154.1:p.Gly2726=
XM_011516854.2:c.7071T>C XP_011515156.1:p.Gly2357=
XM_017013109.1:c.11097T>C XP_016868598.1:p.Gly3699=
XM_017013111.1:c.8178T>C XP_016868600.1:p.Gly2726=
XM_017013112.1:c.6849T>C XP_016868601.1:p.Gly2283=
XM_024447074.1:c.10077T>C XP_024302842.1:p.Gly3359=
NM_017890.5:c.11292T>C MANE Plus Clinical NP_060360.3:p.Gly3764=
NM_152564.5:c.11217T>C MANE Select NP_689777.3:p.Gly3739=