Canonical Allele Identifier: CA4824687
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99832370A>T , CM000670.2:g.99832370A>T GRCh38
NC_000008.10:g.100844598A>T , CM000670.1:g.100844598A>T GRCh37
NC_000008.9:g.100913774A>T NCBI36
NG_007098.2:g.824105A>T , LRG_351:g.824105A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.9407A>T ENSP00000507923.1:p.Tyr3136Phe
ENST00000682358.1:n.9477A>T
ENST00000683334.1:c.*5089A>T ENSP00000507369.1:n.*5089A>T
ENST00000357162.7:c.9332A>T MANE Select ENSP00000349685.2:p.Tyr3111Phe
ENST00000358544.7:c.9407A>T MANE Plus Clinical ENSP00000351346.2:p.Tyr3136Phe
ENST00000357162.6:c.9332A>T ENSP00000349685.2:p.Tyr3111Phe
ENST00000358544.6:c.9407A>T ENSP00000351346.2:p.Tyr3136Phe
NM_017890.4:c.9407A>T , LRG_351t1:c.9407A>T NP_060360.3:p.Tyr3136Phe
NM_152564.4:c.9332A>T , LRG_351t2:c.9332A>T NP_689777.3:p.Tyr3111Phe
XM_005250800.2:c.9407A>T XP_005250857.1:p.Tyr3136Phe
XM_005250801.3:c.9407A>T XP_005250858.1:p.Tyr3136Phe
XM_011516848.1:c.9404A>T XP_011515150.1:p.Tyr3135Phe
XM_011516849.1:c.9329A>T XP_011515151.1:p.Tyr3110Phe
XM_011516850.1:c.9029A>T XP_011515152.1:p.Tyr3010Phe
XM_011516851.1:c.6293A>T XP_011515153.1:p.Tyr2098Phe
XM_011516852.1:c.6293A>T XP_011515154.1:p.Tyr2098Phe
XM_011516854.1:c.5186A>T XP_011515156.1:p.Tyr1729Phe
XM_005250800.3:c.9407A>T XP_005250857.1:p.Tyr3136Phe
XM_005250801.5:c.9407A>T XP_005250858.1:p.Tyr3136Phe
XM_011516848.2:c.9404A>T XP_011515150.1:p.Tyr3135Phe
XM_011516849.2:c.9329A>T XP_011515151.1:p.Tyr3110Phe
XM_011516850.2:c.9029A>T XP_011515152.1:p.Tyr3010Phe
XM_011516851.2:c.6293A>T XP_011515153.1:p.Tyr2098Phe
XM_011516852.2:c.6293A>T XP_011515154.1:p.Tyr2098Phe
XM_011516854.2:c.5186A>T XP_011515156.1:p.Tyr1729Phe
XM_017013109.1:c.9212A>T XP_016868598.1:p.Tyr3071Phe
XM_017013111.1:c.6293A>T XP_016868600.1:p.Tyr2098Phe
XM_017013112.1:c.4964A>T XP_016868601.1:p.Tyr1655Phe
XM_024447074.1:c.8192A>T XP_024302842.1:p.Tyr2731Phe
NM_017890.5:c.9407A>T MANE Plus Clinical NP_060360.3:p.Tyr3136Phe
NM_152564.5:c.9332A>T MANE Select NP_689777.3:p.Tyr3111Phe