Canonical Allele Identifier: CA371769973
Community Standard Title: NM_152564.5(VPS13B):c.8037C>G (p.Tyr2679Ter)
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99809470C>G , CM000670.2:g.99809470C>G GRCh38
NC_000008.10:g.100821698C>G , CM000670.1:g.100821698C>G GRCh37
NC_000008.9:g.100890874C>G NCBI36
NG_007098.2:g.801205C>G , LRG_351:g.801205C>G

Transcript Alleles

HGVS Amino-acid Change
NM_152564.5:c.8037C>G MANE Select NP_689777.3:p.Tyr2679Ter
ENST00000357162.7:c.8037C>G MANE Select ENSP00000349685.2:p.Tyr2679Ter
NM_017890.5:c.8112C>G MANE Plus Clinical NP_060360.3:p.Tyr2704Ter
ENST00000358544.7:c.8112C>G MANE Plus Clinical ENSP00000351346.2:p.Tyr2704Ter
NM_017890.4:c.8112C>G , LRG_351t1:c.8112C>G NP_060360.3:p.Tyr2704Ter
NM_152564.4:c.8037C>G , LRG_351t2:c.8037C>G NP_689777.3:p.Tyr2679Ter
ENST00000357162.6:c.8037C>G ENSP00000349685.2:p.Tyr2679Ter
ENST00000358544.6:c.8112C>G ENSP00000351346.2:p.Tyr2704Ter
ENST00000682153.1:c.8112C>G ENSP00000507923.1:p.Tyr2704Ter
ENST00000682358.1:n.8182C>G
ENST00000683334.1:c.*3794C>G ENSP00000507369.1:n.*3794C>G
XM_005250800.2:c.8112C>G XP_005250857.1:p.Tyr2704Ter
XM_005250800.3:c.8112C>G XP_005250857.1:p.Tyr2704Ter
XM_005250801.3:c.8112C>G XP_005250858.1:p.Tyr2704Ter
XM_005250801.5:c.8112C>G XP_005250858.1:p.Tyr2704Ter
XM_011516848.1:c.8109C>G XP_011515150.1:p.Tyr2703Ter
XM_011516848.2:c.8109C>G XP_011515150.1:p.Tyr2703Ter
XM_011516849.1:c.8034C>G XP_011515151.1:p.Tyr2678Ter
XM_011516849.2:c.8034C>G XP_011515151.1:p.Tyr2678Ter
XM_011516850.1:c.7734C>G XP_011515152.1:p.Tyr2578Ter
XM_011516850.2:c.7734C>G XP_011515152.1:p.Tyr2578Ter
XM_011516851.1:c.4998C>G XP_011515153.1:p.Tyr1666Ter
XM_011516851.2:c.4998C>G XP_011515153.1:p.Tyr1666Ter
XM_011516852.1:c.4998C>G XP_011515154.1:p.Tyr1666Ter
XM_011516852.2:c.4998C>G XP_011515154.1:p.Tyr1666Ter
XM_011516853.1:c.8112C>G XP_011515155.1:p.Tyr2704Ter
XM_011516853.2:c.8112C>G XP_011515155.1:p.Tyr2704Ter
XM_011516854.1:c.3891C>G XP_011515156.1:p.Tyr1297Ter
XM_011516854.2:c.3891C>G XP_011515156.1:p.Tyr1297Ter
XM_017013109.1:c.7917C>G XP_016868598.1:p.Tyr2639Ter
XM_017013111.1:c.4998C>G XP_016868600.1:p.Tyr1666Ter
XM_017013112.1:c.3669C>G XP_016868601.1:p.Tyr1223Ter
XM_024447074.1:c.6897C>G XP_024302842.1:p.Tyr2299Ter