Canonical Allele Identifier: CA371875815
Gene: VPS13B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99776908G>C , CM000670.2:g.99776908G>C GRCh38
NC_000008.10:g.100789136G>C , CM000670.1:g.100789136G>C GRCh37
NC_000008.9:g.100858312G>C NCBI36
NG_007098.2:g.768643G>C , LRG_351:g.768643G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.7456G>C ENSP00000507923.1:p.Ala2486Pro
ENST00000682358.1:n.7526G>C
ENST00000683334.1:c.*3138G>C ENSP00000507369.1:n.*3138G>C
ENST00000357162.7:c.7381G>C MANE Select ENSP00000349685.2:p.Ala2461Pro
ENST00000358544.7:c.7456G>C MANE Plus Clinical ENSP00000351346.2:p.Ala2486Pro
ENST00000357162.6:c.7381G>C ENSP00000349685.2:p.Ala2461Pro
ENST00000358544.6:c.7456G>C ENSP00000351346.2:p.Ala2486Pro
ENST00000518569.1:n.378-1774G>C
NM_017890.4:c.7456G>C , LRG_351t1:c.7456G>C NP_060360.3:p.Ala2486Pro
NM_152564.4:c.7381G>C , LRG_351t2:c.7381G>C NP_689777.3:p.Ala2461Pro
XM_005250800.2:c.7456G>C XP_005250857.1:p.Ala2486Pro
XM_005250801.3:c.7456G>C XP_005250858.1:p.Ala2486Pro
XM_011516848.1:c.7453G>C XP_011515150.1:p.Ala2485Pro
XM_011516849.1:c.7378G>C XP_011515151.1:p.Ala2460Pro
XM_011516850.1:c.7078G>C XP_011515152.1:p.Ala2360Pro
XM_011516851.1:c.4342G>C XP_011515153.1:p.Ala1448Pro
XM_011516852.1:c.4342G>C XP_011515154.1:p.Ala1448Pro
XM_011516853.1:c.7456G>C XP_011515155.1:p.Ala2486Pro
XM_011516854.1:c.3235G>C XP_011515156.1:p.Ala1079Pro
XR_928446.1:n.1830+5570C>G
XM_005250800.3:c.7456G>C XP_005250857.1:p.Ala2486Pro
XM_005250801.5:c.7456G>C XP_005250858.1:p.Ala2486Pro
XM_011516848.2:c.7453G>C XP_011515150.1:p.Ala2485Pro
XM_011516849.2:c.7378G>C XP_011515151.1:p.Ala2460Pro
XM_011516850.2:c.7078G>C XP_011515152.1:p.Ala2360Pro
XM_011516851.2:c.4342G>C XP_011515153.1:p.Ala1448Pro
XM_011516852.2:c.4342G>C XP_011515154.1:p.Ala1448Pro
XM_011516853.2:c.7456G>C XP_011515155.1:p.Ala2486Pro
XM_011516854.2:c.3235G>C XP_011515156.1:p.Ala1079Pro
XM_017013109.1:c.7261G>C XP_016868598.1:p.Ala2421Pro
XM_017013111.1:c.4342G>C XP_016868600.1:p.Ala1448Pro
XM_017013112.1:c.3013G>C XP_016868601.1:p.Ala1005Pro
XM_024447074.1:c.6241G>C XP_024302842.1:p.Ala2081Pro
NM_017890.5:c.7456G>C MANE Plus Clinical NP_060360.3:p.Ala2486Pro
NM_152564.5:c.7381G>C MANE Select NP_689777.3:p.Ala2461Pro