Canonical Allele Identifier: CA371791707
Gene: VPS13B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99868292C>G , CM000670.2:g.99868292C>G GRCh38
NC_000008.10:g.100880520C>G , CM000670.1:g.100880520C>G GRCh37
NC_000008.9:g.100949696C>G NCBI36
NG_007098.2:g.860027C>G , LRG_351:g.860027C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.*388C>G ENSP00000507923.1:n.*388C>G
ENST00000682358.1:n.11364C>G
ENST00000683334.1:c.*6976C>G ENSP00000507369.1:n.*6976C>G
ENST00000357162.7:c.11219C>G MANE Select ENSP00000349685.2:p.Ala3740Gly
ENST00000358544.7:c.11294C>G MANE Plus Clinical ENSP00000351346.2:p.Ala3765Gly
ENST00000357162.6:c.11219C>G ENSP00000349685.2:p.Ala3740Gly
ENST00000358544.6:c.11294C>G ENSP00000351346.2:p.Ala3765Gly
ENST00000493587.1:n.236C>G
NM_017890.4:c.11294C>G , LRG_351t1:c.11294C>G NP_060360.3:p.Ala3765Gly
NM_152564.4:c.11219C>G , LRG_351t2:c.11219C>G NP_689777.3:p.Ala3740Gly
XM_005250800.2:c.11294C>G XP_005250857.1:p.Ala3765Gly
XM_005250801.3:c.11294C>G XP_005250858.1:p.Ala3765Gly
XM_011516848.1:c.11291C>G XP_011515150.1:p.Ala3764Gly
XM_011516849.1:c.11216C>G XP_011515151.1:p.Ala3739Gly
XM_011516850.1:c.10916C>G XP_011515152.1:p.Ala3639Gly
XM_011516851.1:c.8180C>G XP_011515153.1:p.Ala2727Gly
XM_011516852.1:c.8180C>G XP_011515154.1:p.Ala2727Gly
XM_011516854.1:c.7073C>G XP_011515156.1:p.Ala2358Gly
XM_005250800.3:c.11294C>G XP_005250857.1:p.Ala3765Gly
XM_005250801.5:c.11294C>G XP_005250858.1:p.Ala3765Gly
XM_011516848.2:c.11291C>G XP_011515150.1:p.Ala3764Gly
XM_011516849.2:c.11216C>G XP_011515151.1:p.Ala3739Gly
XM_011516850.2:c.10916C>G XP_011515152.1:p.Ala3639Gly
XM_011516851.2:c.8180C>G XP_011515153.1:p.Ala2727Gly
XM_011516852.2:c.8180C>G XP_011515154.1:p.Ala2727Gly
XM_011516854.2:c.7073C>G XP_011515156.1:p.Ala2358Gly
XM_017013109.1:c.11099C>G XP_016868598.1:p.Ala3700Gly
XM_017013111.1:c.8180C>G XP_016868600.1:p.Ala2727Gly
XM_017013112.1:c.6851C>G XP_016868601.1:p.Ala2284Gly
XM_024447074.1:c.10079C>G XP_024302842.1:p.Ala3360Gly
NM_017890.5:c.11294C>G MANE Plus Clinical NP_060360.3:p.Ala3765Gly
NM_152564.5:c.11219C>G MANE Select NP_689777.3:p.Ala3740Gly