Canonical Allele Identifier: CA1805821246
Community Standard Title: NM_152564.5(VPS13B):c.5515C= (p.Gln1839=)
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99642105C= , CM000670.2:g.99642105C= GRCh38
NC_000008.10:g.100654333C= , CM000670.1:g.100654333C= GRCh37
NC_000008.9:g.100723509C= NCBI36
NG_007098.2:g.633840C= , LRG_351:g.633840C=

Transcript Alleles

HGVS Amino-acid Change
NM_152564.5:c.5515C= MANE Select NP_689777.3:p.Gln1839=
ENST00000357162.7:c.5515C= MANE Select ENSP00000349685.2:p.Gln1839=
NM_017890.5:c.5590C= MANE Plus Clinical NP_060360.3:p.Gln1864=
ENST00000358544.7:c.5590C= MANE Plus Clinical ENSP00000351346.2:p.Gln1864=
NM_017890.4:c.5590C= , LRG_351t1:c.5590C= NP_060360.3:p.Gln1864=
NM_152564.4:c.5515C= , LRG_351t2:c.5515C= NP_689777.3:p.Gln1839=
ENST00000357162.6:c.5515C= ENSP00000349685.2:p.Gln1839=
ENST00000358544.6:c.5590C= ENSP00000351346.2:p.Gln1864=
ENST00000682153.1:c.5590C= ENSP00000507923.1:p.Gln1864=
ENST00000682358.1:n.5660C=
ENST00000683334.1:c.*1272C= ENSP00000507369.1:n.*1272C=
XM_005250800.2:c.5590C= XP_005250857.1:p.Gln1864=
XM_005250800.3:c.5590C= XP_005250857.1:p.Gln1864=
XM_005250801.3:c.5590C= XP_005250858.1:p.Gln1864=
XM_005250801.5:c.5590C= XP_005250858.1:p.Gln1864=
XM_011516848.1:c.5587C= XP_011515150.1:p.Gln1863=
XM_011516848.2:c.5587C= XP_011515150.1:p.Gln1863=
XM_011516849.1:c.5512C= XP_011515151.1:p.Gln1838=
XM_011516849.2:c.5512C= XP_011515151.1:p.Gln1838=
XM_011516850.1:c.5212C= XP_011515152.1:p.Gln1738=
XM_011516850.2:c.5212C= XP_011515152.1:p.Gln1738=
XM_011516851.1:c.2476C= XP_011515153.1:p.Gln826=
XM_011516851.2:c.2476C= XP_011515153.1:p.Gln826=
XM_011516852.1:c.2476C= XP_011515154.1:p.Gln826=
XM_011516852.2:c.2476C= XP_011515154.1:p.Gln826=
XM_011516853.1:c.5590C= XP_011515155.1:p.Gln1864=
XM_011516853.2:c.5590C= XP_011515155.1:p.Gln1864=
XM_011516854.1:c.1369C= XP_011515156.1:p.Gln457=
XM_011516854.2:c.1369C= XP_011515156.1:p.Gln457=
XM_017013109.1:c.5395C= XP_016868598.1:p.Gln1799=
XM_017013111.1:c.2476C= XP_016868600.1:p.Gln826=
XM_017013112.1:c.1147C= XP_016868601.1:p.Gln383=
XM_024447074.1:c.4375C= XP_024302842.1:p.Gln1459=
XR_001745482.2:n.5551C=