Canonical Allele Identifier: CA371792145
Gene: VPS13B HGNC NCBI

Linked Data

gnomAD v4: 8-99868397-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99868397A>G , CM000670.2:g.99868397A>G GRCh38
NC_000008.10:g.100880625A>G , CM000670.1:g.100880625A>G GRCh37
NC_000008.9:g.100949801A>G NCBI36
NG_007098.2:g.860132A>G , LRG_351:g.860132A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.*493A>G ENSP00000507923.1:n.*493A>G
ENST00000682358.1:n.11469A>G
ENST00000683334.1:c.*7081A>G ENSP00000507369.1:n.*7081A>G
ENST00000357162.7:c.11324A>G MANE Select ENSP00000349685.2:p.Lys3775Arg
ENST00000358544.7:c.11399A>G MANE Plus Clinical ENSP00000351346.2:p.Lys3800Arg
ENST00000357162.6:c.11324A>G ENSP00000349685.2:p.Lys3775Arg
ENST00000358544.6:c.11399A>G ENSP00000351346.2:p.Lys3800Arg
ENST00000493587.1:n.341A>G
NM_017890.4:c.11399A>G , LRG_351t1:c.11399A>G NP_060360.3:p.Lys3800Arg
NM_152564.4:c.11324A>G , LRG_351t2:c.11324A>G NP_689777.3:p.Lys3775Arg
XM_005250800.2:c.11399A>G XP_005250857.1:p.Lys3800Arg
XM_005250801.3:c.11399A>G XP_005250858.1:p.Lys3800Arg
XM_011516848.1:c.11396A>G XP_011515150.1:p.Lys3799Arg
XM_011516849.1:c.11321A>G XP_011515151.1:p.Lys3774Arg
XM_011516850.1:c.11021A>G XP_011515152.1:p.Lys3674Arg
XM_011516851.1:c.8285A>G XP_011515153.1:p.Lys2762Arg
XM_011516852.1:c.8285A>G XP_011515154.1:p.Lys2762Arg
XM_011516854.1:c.7178A>G XP_011515156.1:p.Lys2393Arg
XM_005250800.3:c.11399A>G XP_005250857.1:p.Lys3800Arg
XM_005250801.5:c.11399A>G XP_005250858.1:p.Lys3800Arg
XM_011516848.2:c.11396A>G XP_011515150.1:p.Lys3799Arg
XM_011516849.2:c.11321A>G XP_011515151.1:p.Lys3774Arg
XM_011516850.2:c.11021A>G XP_011515152.1:p.Lys3674Arg
XM_011516851.2:c.8285A>G XP_011515153.1:p.Lys2762Arg
XM_011516852.2:c.8285A>G XP_011515154.1:p.Lys2762Arg
XM_011516854.2:c.7178A>G XP_011515156.1:p.Lys2393Arg
XM_017013109.1:c.11204A>G XP_016868598.1:p.Lys3735Arg
XM_017013111.1:c.8285A>G XP_016868600.1:p.Lys2762Arg
XM_017013112.1:c.6956A>G XP_016868601.1:p.Lys2319Arg
XM_024447074.1:c.10184A>G XP_024302842.1:p.Lys3395Arg
NM_017890.5:c.11399A>G MANE Plus Clinical NP_060360.3:p.Lys3800Arg
NM_152564.5:c.11324A>G MANE Select NP_689777.3:p.Lys3775Arg