Canonical Allele Identifier: CA371776156
Gene: VPS13B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99819448C>G , CM000670.2:g.99819448C>G GRCh38
NC_000008.10:g.100831676C>G , CM000670.1:g.100831676C>G GRCh37
NC_000008.9:g.100900852C>G NCBI36
NG_007098.2:g.811183C>G , LRG_351:g.811183C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.8733C>G ENSP00000507923.1:p.Ile2911Met
ENST00000682358.1:n.8803C>G
ENST00000683334.1:c.*4415C>G ENSP00000507369.1:n.*4415C>G
ENST00000357162.7:c.8658C>G MANE Select ENSP00000349685.2:p.Ile2886Met
ENST00000358544.7:c.8733C>G MANE Plus Clinical ENSP00000351346.2:p.Ile2911Met
ENST00000357162.6:c.8658C>G ENSP00000349685.2:p.Ile2886Met
ENST00000358544.6:c.8733C>G ENSP00000351346.2:p.Ile2911Met
NM_017890.4:c.8733C>G , LRG_351t1:c.8733C>G NP_060360.3:p.Ile2911Met
NM_152564.4:c.8658C>G , LRG_351t2:c.8658C>G NP_689777.3:p.Ile2886Met
XM_005250800.2:c.8733C>G XP_005250857.1:p.Ile2911Met
XM_005250801.3:c.8733C>G XP_005250858.1:p.Ile2911Met
XM_011516848.1:c.8730C>G XP_011515150.1:p.Ile2910Met
XM_011516849.1:c.8655C>G XP_011515151.1:p.Ile2885Met
XM_011516850.1:c.8355C>G XP_011515152.1:p.Ile2785Met
XM_011516851.1:c.5619C>G XP_011515153.1:p.Ile1873Met
XM_011516852.1:c.5619C>G XP_011515154.1:p.Ile1873Met
XM_011516854.1:c.4512C>G XP_011515156.1:p.Ile1504Met
XM_005250800.3:c.8733C>G XP_005250857.1:p.Ile2911Met
XM_005250801.5:c.8733C>G XP_005250858.1:p.Ile2911Met
XM_011516848.2:c.8730C>G XP_011515150.1:p.Ile2910Met
XM_011516849.2:c.8655C>G XP_011515151.1:p.Ile2885Met
XM_011516850.2:c.8355C>G XP_011515152.1:p.Ile2785Met
XM_011516851.2:c.5619C>G XP_011515153.1:p.Ile1873Met
XM_011516852.2:c.5619C>G XP_011515154.1:p.Ile1873Met
XM_011516854.2:c.4512C>G XP_011515156.1:p.Ile1504Met
XM_017013109.1:c.8538C>G XP_016868598.1:p.Ile2846Met
XM_017013111.1:c.5619C>G XP_016868600.1:p.Ile1873Met
XM_017013112.1:c.4290C>G XP_016868601.1:p.Ile1430Met
XM_024447074.1:c.7518C>G XP_024302842.1:p.Ile2506Met
NM_017890.5:c.8733C>G MANE Plus Clinical NP_060360.3:p.Ile2911Met
NM_152564.5:c.8658C>G MANE Select NP_689777.3:p.Ile2886Met