Canonical Allele Identifier: CA371792264
Gene: VPS13B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99868418C>G , CM000670.2:g.99868418C>G GRCh38
NC_000008.10:g.100880646C>G , CM000670.1:g.100880646C>G GRCh37
NC_000008.9:g.100949822C>G NCBI36
NG_007098.2:g.860153C>G , LRG_351:g.860153C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.*514C>G ENSP00000507923.1:n.*514C>G
ENST00000682358.1:n.11490C>G
ENST00000683334.1:c.*7102C>G ENSP00000507369.1:n.*7102C>G
ENST00000357162.7:c.11345C>G MANE Select ENSP00000349685.2:p.Thr3782Arg
ENST00000358544.7:c.11420C>G MANE Plus Clinical ENSP00000351346.2:p.Thr3807Arg
ENST00000357162.6:c.11345C>G ENSP00000349685.2:p.Thr3782Arg
ENST00000358544.6:c.11420C>G ENSP00000351346.2:p.Thr3807Arg
ENST00000493587.1:n.362C>G
NM_017890.4:c.11420C>G , LRG_351t1:c.11420C>G NP_060360.3:p.Thr3807Arg
NM_152564.4:c.11345C>G , LRG_351t2:c.11345C>G NP_689777.3:p.Thr3782Arg
XM_005250800.2:c.11420C>G XP_005250857.1:p.Thr3807Arg
XM_005250801.3:c.11420C>G XP_005250858.1:p.Thr3807Arg
XM_011516848.1:c.11417C>G XP_011515150.1:p.Thr3806Arg
XM_011516849.1:c.11342C>G XP_011515151.1:p.Thr3781Arg
XM_011516850.1:c.11042C>G XP_011515152.1:p.Thr3681Arg
XM_011516851.1:c.8306C>G XP_011515153.1:p.Thr2769Arg
XM_011516852.1:c.8306C>G XP_011515154.1:p.Thr2769Arg
XM_011516854.1:c.7199C>G XP_011515156.1:p.Thr2400Arg
XM_005250800.3:c.11420C>G XP_005250857.1:p.Thr3807Arg
XM_005250801.5:c.11420C>G XP_005250858.1:p.Thr3807Arg
XM_011516848.2:c.11417C>G XP_011515150.1:p.Thr3806Arg
XM_011516849.2:c.11342C>G XP_011515151.1:p.Thr3781Arg
XM_011516850.2:c.11042C>G XP_011515152.1:p.Thr3681Arg
XM_011516851.2:c.8306C>G XP_011515153.1:p.Thr2769Arg
XM_011516852.2:c.8306C>G XP_011515154.1:p.Thr2769Arg
XM_011516854.2:c.7199C>G XP_011515156.1:p.Thr2400Arg
XM_017013109.1:c.11225C>G XP_016868598.1:p.Thr3742Arg
XM_017013111.1:c.8306C>G XP_016868600.1:p.Thr2769Arg
XM_017013112.1:c.6977C>G XP_016868601.1:p.Thr2326Arg
XM_024447074.1:c.10205C>G XP_024302842.1:p.Thr3402Arg
NM_017890.5:c.11420C>G MANE Plus Clinical NP_060360.3:p.Thr3807Arg
NM_152564.5:c.11345C>G MANE Select NP_689777.3:p.Thr3782Arg