Canonical Allele Identifier: CA2173694732
Gene: SPG11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44583905C= , CM000677.2:g.44583905C= GRCh38
NC_000015.9:g.44876103C= , CM000677.1:g.44876103C= GRCh37
NC_000015.8:g.42663395C= NCBI36
NG_008885.1:g.84774G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.5775G= ENSP00000453246.2:p.Glu1925=
ENST00000561391.2:n.2003G=
ENST00000682065.1:c.5631G= ENSP00000507025.1:p.Glu1877=
ENST00000682460.1:c.*2032G= ENSP00000508334.1:n.*2032G=
ENST00000682495.1:c.*2267G= ENSP00000507166.1:n.*2267G=
ENST00000682669.1:c.5574G= ENSP00000507782.1:p.Glu1858=
ENST00000683186.1:c.*2538G= ENSP00000507268.1:n.*2538G=
ENST00000683496.1:c.5775G= ENSP00000506968.1:p.Glu1925=
ENST00000683734.1:c.5775G= ENSP00000508319.1:p.Glu1925=
ENST00000683753.1:n.4821G=
ENST00000684038.1:c.*2195G= ENSP00000507141.1:n.*2195G=
ENST00000684235.1:c.5775G= ENSP00000508295.1:p.Glu1925=
ENST00000684676.1:c.5546G= ENSP00000506948.1:p.Arg1849=
ENST00000261866.12:c.5775G= MANE Select ENSP00000261866.7:p.Glu1925=
ENST00000261866.11:c.5775G= ENSP00000261866.7:p.Glu1925=
ENST00000427534.6:c.5775G= ENSP00000396110.2:p.Glu1925=
ENST00000535302.6:c.5775G= ENSP00000445278.2:p.Glu1925=
ENST00000558319.5:c.5775G= ENSP00000453599.1:p.Glu1925=
ENST00000559511.5:c.623G=
ENST00000559822.1:c.318G=
NM_001160227.1:c.5775G= NP_001153699.1:p.Glu1925=
NM_025137.3:c.5775G= NP_079413.3:p.Glu1925=
XM_005254695.3:c.5517G= XP_005254752.1:p.Glu1839=
XM_006720700.1:c.5631G= XP_006720763.1:p.Glu1877=
XM_017022634.1:c.5775G= XP_016878123.1:p.Glu1925=
XM_017022636.1:c.2652G= XP_016878125.1:p.Glu884=
NM_025137.4:c.5775G= MANE Select NP_079413.3:p.Glu1925=
NM_001160227.2:c.5775G= NP_001153699.1:p.Glu1925=