Canonical Allele Identifier: CA277266
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 41333
dbSNP Id: rs200793464

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44574934G>A , CM000677.2:g.44574934G>A GRCh38
NC_000015.9:g.44867132G>A , CM000677.1:g.44867132G>A GRCh37
NC_000015.8:g.42654424G>A NCBI36
NG_008885.1:g.93745C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.5867-4276C>T ENSP00000453246.2:n.5867-4276C>T
ENST00000561391.2:n.2202C>T
ENST00000682065.1:c.5830C>T ENSP00000507025.1:p.Arg1944Ter
ENST00000682460.1:c.*2231C>T ENSP00000508334.1:n.*2231C>T
ENST00000682495.1:c.*2466C>T ENSP00000507166.1:n.*2466C>T
ENST00000682669.1:c.5773C>T ENSP00000507782.1:p.Arg1925Ter
ENST00000683186.1:c.*2737C>T ENSP00000507268.1:n.*2737C>T
ENST00000683496.1:c.5974C>T ENSP00000506968.1:p.Arg1992Ter
ENST00000683734.1:c.5867-1189C>T ENSP00000508319.1:n.5867-1189C>T
ENST00000683753.1:n.5020C>T
ENST00000684038.1:c.*2394C>T ENSP00000507141.1:n.*2394C>T
ENST00000684235.1:c.5974C>T ENSP00000508295.1:p.Arg1992Ter
ENST00000684676.1:c.*123C>T ENSP00000506948.1:n.*123C>T
ENST00000261866.12:c.5974C>T MANE Select ENSP00000261866.7:p.Arg1992Ter
ENST00000261866.11:c.5974C>T ENSP00000261866.7:p.Arg1992Ter
ENST00000427534.6:c.5974C>T ENSP00000396110.2:p.Arg1992Ter
ENST00000535302.6:c.5867-2114C>T ENSP00000445278.2:n.5867-2114C>T
ENST00000558080.1:n.339C>T
ENST00000558319.5:c.5974C>T ENSP00000453599.1:p.Arg1992Ter
ENST00000559511.5:c.715-4276C>T
ENST00000559822.1:c.517C>T
NM_001160227.1:c.5867-2114C>T NP_001153699.1:n.5867-2114C>T
NM_025137.3:c.5974C>T NP_079413.3:p.Arg1992Ter
XM_005254695.3:c.5716C>T XP_005254752.1:p.Arg1906Ter
XM_006720700.1:c.5830C>T XP_006720763.1:p.Arg1944Ter
XM_017022634.1:c.5974C>T XP_016878123.1:p.Arg1992Ter
XM_017022636.1:c.2851C>T XP_016878125.1:p.Arg951Ter
NM_025137.4:c.5974C>T MANE Select NP_079413.3:p.Arg1992Ter
NM_001160227.2:c.5867-2114C>T NP_001153699.1:n.5867-2114C>T