Canonical Allele Identifier: CA371790275
Gene: VPS13B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99861800T>G , CM000670.2:g.99861800T>G GRCh38
NC_000008.10:g.100874028T>G , CM000670.1:g.100874028T>G GRCh37
NC_000008.9:g.100943204T>G NCBI36
NG_007098.2:g.853535T>G , LRG_351:g.853535T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.*238T>G ENSP00000507923.1:n.*238T>G
ENST00000682358.1:n.11214T>G
ENST00000683334.1:c.*6826T>G ENSP00000507369.1:n.*6826T>G
ENST00000357162.7:c.11069T>G MANE Select ENSP00000349685.2:p.Leu3690Arg
ENST00000358544.7:c.11144T>G MANE Plus Clinical ENSP00000351346.2:p.Leu3715Arg
ENST00000357162.6:c.11069T>G ENSP00000349685.2:p.Leu3690Arg
ENST00000358544.6:c.11144T>G ENSP00000351346.2:p.Leu3715Arg
NM_017890.4:c.11144T>G , LRG_351t1:c.11144T>G NP_060360.3:p.Leu3715Arg
NM_152564.4:c.11069T>G , LRG_351t2:c.11069T>G NP_689777.3:p.Leu3690Arg
XM_005250800.2:c.11144T>G XP_005250857.1:p.Leu3715Arg
XM_005250801.3:c.11144T>G XP_005250858.1:p.Leu3715Arg
XM_011516848.1:c.11141T>G XP_011515150.1:p.Leu3714Arg
XM_011516849.1:c.11066T>G XP_011515151.1:p.Leu3689Arg
XM_011516850.1:c.10766T>G XP_011515152.1:p.Leu3589Arg
XM_011516851.1:c.8030T>G XP_011515153.1:p.Leu2677Arg
XM_011516852.1:c.8030T>G XP_011515154.1:p.Leu2677Arg
XM_011516854.1:c.6923T>G XP_011515156.1:p.Leu2308Arg
XM_005250800.3:c.11144T>G XP_005250857.1:p.Leu3715Arg
XM_005250801.5:c.11144T>G XP_005250858.1:p.Leu3715Arg
XM_011516848.2:c.11141T>G XP_011515150.1:p.Leu3714Arg
XM_011516849.2:c.11066T>G XP_011515151.1:p.Leu3689Arg
XM_011516850.2:c.10766T>G XP_011515152.1:p.Leu3589Arg
XM_011516851.2:c.8030T>G XP_011515153.1:p.Leu2677Arg
XM_011516852.2:c.8030T>G XP_011515154.1:p.Leu2677Arg
XM_011516854.2:c.6923T>G XP_011515156.1:p.Leu2308Arg
XM_017013109.1:c.10949T>G XP_016868598.1:p.Leu3650Arg
XM_017013111.1:c.8030T>G XP_016868600.1:p.Leu2677Arg
XM_017013112.1:c.6701T>G XP_016868601.1:p.Leu2234Arg
XM_024447074.1:c.9929T>G XP_024302842.1:p.Leu3310Arg
NM_017890.5:c.11144T>G MANE Plus Clinical NP_060360.3:p.Leu3715Arg
NM_152564.5:c.11069T>G MANE Select NP_689777.3:p.Leu3690Arg