Canonical Allele Identifier: CA1805815776
Community Standard Title: NM_152564.5(VPS13B):c.6343C= (p.Gln2115=)
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99699821C= , CM000670.2:g.99699821C= GRCh38
NC_000008.10:g.100712049C= , CM000670.1:g.100712049C= GRCh37
NC_000008.9:g.100781225C= NCBI36
NG_007098.2:g.691556C= , LRG_351:g.691556C=

Transcript Alleles

HGVS Amino-acid Change
NM_152564.5:c.6343C= MANE Select NP_689777.3:p.Gln2115=
ENST00000357162.7:c.6343C= MANE Select ENSP00000349685.2:p.Gln2115=
NM_017890.5:c.6418C= MANE Plus Clinical NP_060360.3:p.Gln2140=
ENST00000358544.7:c.6418C= MANE Plus Clinical ENSP00000351346.2:p.Gln2140=
NM_017890.4:c.6418C= , LRG_351t1:c.6418C= NP_060360.3:p.Gln2140=
NM_152564.4:c.6343C= , LRG_351t2:c.6343C= NP_689777.3:p.Gln2115=
ENST00000357162.6:c.6343C= ENSP00000349685.2:p.Gln2115=
ENST00000358544.6:c.6418C= ENSP00000351346.2:p.Gln2140=
ENST00000682153.1:c.6418C= ENSP00000507923.1:p.Gln2140=
ENST00000682358.1:n.6488C=
ENST00000683334.1:c.*2100C= ENSP00000507369.1:n.*2100C=
XM_005250800.2:c.6418C= XP_005250857.1:p.Gln2140=
XM_005250800.3:c.6418C= XP_005250857.1:p.Gln2140=
XM_005250801.3:c.6418C= XP_005250858.1:p.Gln2140=
XM_005250801.5:c.6418C= XP_005250858.1:p.Gln2140=
XM_011516848.1:c.6415C= XP_011515150.1:p.Gln2139=
XM_011516848.2:c.6415C= XP_011515150.1:p.Gln2139=
XM_011516849.1:c.6340C= XP_011515151.1:p.Gln2114=
XM_011516849.2:c.6340C= XP_011515151.1:p.Gln2114=
XM_011516850.1:c.6040C= XP_011515152.1:p.Gln2014=
XM_011516850.2:c.6040C= XP_011515152.1:p.Gln2014=
XM_011516851.1:c.3304C= XP_011515153.1:p.Gln1102=
XM_011516851.2:c.3304C= XP_011515153.1:p.Gln1102=
XM_011516852.1:c.3304C= XP_011515154.1:p.Gln1102=
XM_011516852.2:c.3304C= XP_011515154.1:p.Gln1102=
XM_011516853.1:c.6418C= XP_011515155.1:p.Gln2140=
XM_011516853.2:c.6418C= XP_011515155.1:p.Gln2140=
XM_011516854.1:c.2197C= XP_011515156.1:p.Gln733=
XM_011516854.2:c.2197C= XP_011515156.1:p.Gln733=
XM_017013109.1:c.6223C= XP_016868598.1:p.Gln2075=
XM_017013111.1:c.3304C= XP_016868600.1:p.Gln1102=
XM_017013112.1:c.1975C= XP_016868601.1:p.Gln659=
XM_024447074.1:c.5203C= XP_024302842.1:p.Gln1735=