Canonical Allele Identifier: CA1805814884
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99699526G= , CM000670.2:g.99699526G= GRCh38
NC_000008.10:g.100711754G= , CM000670.1:g.100711754G= GRCh37
NC_000008.9:g.100780930G= NCBI36
NG_007098.2:g.691261G= , LRG_351:g.691261G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.6123G= ENSP00000507923.1:p.Ala2041=
ENST00000682358.1:n.6193G=
ENST00000683334.1:c.*1805G= ENSP00000507369.1:n.*1805G=
ENST00000357162.7:c.6048G= MANE Select ENSP00000349685.2:p.Ala2016=
ENST00000358544.7:c.6123G= MANE Plus Clinical ENSP00000351346.2:p.Ala2041=
ENST00000357162.6:c.6048G= ENSP00000349685.2:p.Ala2016=
ENST00000358544.6:c.6123G= ENSP00000351346.2:p.Ala2041=
NM_017890.4:c.6123G= , LRG_351t1:c.6123G= NP_060360.3:p.Ala2041=
NM_152564.4:c.6048G= , LRG_351t2:c.6048G= NP_689777.3:p.Ala2016=
XM_005250800.2:c.6123G= XP_005250857.1:p.Ala2041=
XM_005250801.3:c.6123G= XP_005250858.1:p.Ala2041=
XM_011516848.1:c.6120G= XP_011515150.1:p.Ala2040=
XM_011516849.1:c.6045G= XP_011515151.1:p.Ala2015=
XM_011516850.1:c.5745G= XP_011515152.1:p.Ala1915=
XM_011516851.1:c.3009G= XP_011515153.1:p.Ala1003=
XM_011516852.1:c.3009G= XP_011515154.1:p.Ala1003=
XM_011516853.1:c.6123G= XP_011515155.1:p.Ala2041=
XM_011516854.1:c.1902G= XP_011515156.1:p.Ala634=
XM_005250800.3:c.6123G= XP_005250857.1:p.Ala2041=
XM_005250801.5:c.6123G= XP_005250858.1:p.Ala2041=
XM_011516848.2:c.6120G= XP_011515150.1:p.Ala2040=
XM_011516849.2:c.6045G= XP_011515151.1:p.Ala2015=
XM_011516850.2:c.5745G= XP_011515152.1:p.Ala1915=
XM_011516851.2:c.3009G= XP_011515153.1:p.Ala1003=
XM_011516852.2:c.3009G= XP_011515154.1:p.Ala1003=
XM_011516853.2:c.6123G= XP_011515155.1:p.Ala2041=
XM_011516854.2:c.1902G= XP_011515156.1:p.Ala634=
XM_017013109.1:c.5928G= XP_016868598.1:p.Ala1976=
XM_017013111.1:c.3009G= XP_016868600.1:p.Ala1003=
XM_017013112.1:c.1680G= XP_016868601.1:p.Ala560=
XM_024447074.1:c.4908G= XP_024302842.1:p.Ala1636=
XR_001745482.2:n.6084G=
NM_017890.5:c.6123G= MANE Plus Clinical NP_060360.3:p.Ala2041=
NM_152564.5:c.6048G= MANE Select NP_689777.3:p.Ala2016=