Canonical Allele Identifier: CA2173689564
Community Standard Title: NM_025137.4(SPG11):c.6091C= (p.Arg2031=)
Gene: SPG11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44573661G= , CM000677.2:g.44573661G= GRCh38
NC_000015.9:g.44865859G= , CM000677.1:g.44865859G= GRCh37
NC_000015.8:g.42653151G= NCBI36
NG_008885.1:g.95018C=

Transcript Alleles

HGVS Amino-acid Change
NM_025137.4:c.6091C= MANE Select NP_079413.3:p.Arg2031=
ENST00000261866.12:c.6091C= MANE Select ENSP00000261866.7:p.Arg2031=
NM_001160227.1:c.5867-841C= NP_001153699.1:n.5867-841C=
NM_001160227.2:c.5867-841C= NP_001153699.1:n.5867-841C=
NM_025137.3:c.6091C= NP_079413.3:p.Arg2031=
ENST00000261866.11:c.6091C= ENSP00000261866.7:p.Arg2031=
ENST00000427534.6:c.6091C= ENSP00000396110.2:p.Arg2031=
ENST00000535302.6:c.5867-841C= ENSP00000445278.2:n.5867-841C=
ENST00000558080.1:n.456C=
ENST00000558319.5:c.6091C= ENSP00000453599.1:p.Arg2031=
ENST00000559511.5:c.715-3003C=
ENST00000559511.6:c.5867-3003C= ENSP00000453246.2:n.5867-3003C=
ENST00000559933.1:n.160C=
ENST00000561268.5:n.23C=
ENST00000561391.2:n.2319C=
ENST00000682065.1:c.5947C= ENSP00000507025.1:p.Arg1983=
ENST00000682460.1:c.*2348C= ENSP00000508334.1:n.*2348C=
ENST00000682495.1:c.*2583C= ENSP00000507166.1:n.*2583C=
ENST00000682669.1:c.5890C= ENSP00000507782.1:p.Arg1964=
ENST00000683186.1:c.*2854C= ENSP00000507268.1:n.*2854C=
ENST00000683496.1:c.6006+1241C= ENSP00000506968.1:n.6006+1241C=
ENST00000683734.1:c.*41C= ENSP00000508319.1:n.*41C=
ENST00000683753.1:n.5137C=
ENST00000684038.1:c.*2511C= ENSP00000507141.1:n.*2511C=
ENST00000684235.1:c.6091C= ENSP00000508295.1:p.Arg2031=
ENST00000684676.1:c.*240C= ENSP00000506948.1:n.*240C=
XM_005254695.3:c.5833C= XP_005254752.1:p.Arg1945=
XM_006720700.1:c.5947C= XP_006720763.1:p.Arg1983=
XM_017022634.1:c.6091C= XP_016878123.1:p.Arg2031=
XM_017022636.1:c.2968C= XP_016878125.1:p.Arg990=