Canonical Allele Identifier: CA3156712821
Community Standard Title: NM_152564.5(VPS13B):c.7073G= (p.Trp2358=)
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99766796G= , CM000670.2:g.99766796G= GRCh38
NC_000008.10:g.100779024G= , CM000670.1:g.100779024G= GRCh37
NC_000008.9:g.100848200G= NCBI36
NG_007098.2:g.758531G= , LRG_351:g.758531G=

Transcript Alleles

HGVS Amino-acid Change
NM_152564.5:c.7073G= MANE Select NP_689777.3:p.Trp2358=
ENST00000357162.7:c.7073G= MANE Select ENSP00000349685.2:p.Trp2358=
NM_017890.5:c.7148G= MANE Plus Clinical NP_060360.3:p.Trp2383=
ENST00000358544.7:c.7148G= MANE Plus Clinical ENSP00000351346.2:p.Trp2383=
NM_017890.4:c.7148G= , LRG_351t1:c.7148G= NP_060360.3:p.Trp2383=
NM_152564.4:c.7073G= , LRG_351t2:c.7073G= NP_689777.3:p.Trp2358=
ENST00000357162.6:c.7073G= ENSP00000349685.2:p.Trp2358=
ENST00000358544.6:c.7148G= ENSP00000351346.2:p.Trp2383=
ENST00000518569.1:n.203G=
ENST00000682153.1:c.7148G= ENSP00000507923.1:p.Trp2383=
ENST00000682358.1:n.7218G=
ENST00000683334.1:c.*2830G= ENSP00000507369.1:n.*2830G=
XM_005250800.2:c.7148G= XP_005250857.1:p.Trp2383=
XM_005250800.3:c.7148G= XP_005250857.1:p.Trp2383=
XM_005250801.3:c.7148G= XP_005250858.1:p.Trp2383=
XM_005250801.5:c.7148G= XP_005250858.1:p.Trp2383=
XM_011516848.1:c.7145G= XP_011515150.1:p.Trp2382=
XM_011516848.2:c.7145G= XP_011515150.1:p.Trp2382=
XM_011516849.1:c.7070G= XP_011515151.1:p.Trp2357=
XM_011516849.2:c.7070G= XP_011515151.1:p.Trp2357=
XM_011516850.1:c.6770G= XP_011515152.1:p.Trp2257=
XM_011516850.2:c.6770G= XP_011515152.1:p.Trp2257=
XM_011516851.1:c.4034G= XP_011515153.1:p.Trp1345=
XM_011516851.2:c.4034G= XP_011515153.1:p.Trp1345=
XM_011516852.1:c.4034G= XP_011515154.1:p.Trp1345=
XM_011516852.2:c.4034G= XP_011515154.1:p.Trp1345=
XM_011516853.1:c.7148G= XP_011515155.1:p.Trp2383=
XM_011516853.2:c.7148G= XP_011515155.1:p.Trp2383=
XM_011516854.1:c.2927G= XP_011515156.1:p.Trp976=
XM_011516854.2:c.2927G= XP_011515156.1:p.Trp976=
XM_017013109.1:c.6953G= XP_016868598.1:p.Trp2318=
XM_017013111.1:c.4034G= XP_016868600.1:p.Trp1345=
XM_017013112.1:c.2705G= XP_016868601.1:p.Trp902=
XM_024447074.1:c.5933G= XP_024302842.1:p.Trp1978=
XR_928446.1:n.2065+3892C=