Canonical Allele Identifier: CA2173689537
Community Standard Title: NM_025137.4(SPG11):c.6100C= (p.Arg2034=)
Gene: SPG11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44573652G= , CM000677.2:g.44573652G= GRCh38
NC_000015.9:g.44865850G= , CM000677.1:g.44865850G= GRCh37
NC_000015.8:g.42653142G= NCBI36
NG_008885.1:g.95027C=

Transcript Alleles

HGVS Amino-acid Change
NM_025137.4:c.6100C= MANE Select NP_079413.3:p.Arg2034=
ENST00000261866.12:c.6100C= MANE Select ENSP00000261866.7:p.Arg2034=
NM_001160227.1:c.5867-832C= NP_001153699.1:n.5867-832C=
NM_001160227.2:c.5867-832C= NP_001153699.1:n.5867-832C=
NM_025137.3:c.6100C= NP_079413.3:p.Arg2034=
ENST00000261866.11:c.6100C= ENSP00000261866.7:p.Arg2034=
ENST00000427534.6:c.6100C= ENSP00000396110.2:p.Arg2034=
ENST00000535302.6:c.5867-832C= ENSP00000445278.2:n.5867-832C=
ENST00000558080.1:n.465C=
ENST00000558319.5:c.6100C= ENSP00000453599.1:p.Arg2034=
ENST00000559511.5:c.715-2994C=
ENST00000559511.6:c.5867-2994C= ENSP00000453246.2:n.5867-2994C=
ENST00000559933.1:n.169C=
ENST00000561268.5:n.32C=
ENST00000561391.2:n.2328C=
ENST00000682065.1:c.5956C= ENSP00000507025.1:p.Arg1986=
ENST00000682460.1:c.*2357C= ENSP00000508334.1:n.*2357C=
ENST00000682495.1:c.*2592C= ENSP00000507166.1:n.*2592C=
ENST00000682669.1:c.5899C= ENSP00000507782.1:p.Arg1967=
ENST00000683186.1:c.*2863C= ENSP00000507268.1:n.*2863C=
ENST00000683496.1:c.6006+1250C= ENSP00000506968.1:n.6006+1250C=
ENST00000683734.1:c.*50C= ENSP00000508319.1:n.*50C=
ENST00000683753.1:n.5146C=
ENST00000684038.1:c.*2520C= ENSP00000507141.1:n.*2520C=
ENST00000684235.1:c.6100C= ENSP00000508295.1:p.Arg2034=
ENST00000684676.1:c.*249C= ENSP00000506948.1:n.*249C=
XM_005254695.3:c.5842C= XP_005254752.1:p.Arg1948=
XM_006720700.1:c.5956C= XP_006720763.1:p.Arg1986=
XM_017022634.1:c.6100C= XP_016878123.1:p.Arg2034=
XM_017022636.1:c.2977C= XP_016878125.1:p.Arg993=