Canonical Allele Identifier: CA344370
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 41340
dbSNP Id: rs147713329

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.5867-3003C>T ENSP00000453246.2:n.5867-3003C>T
ENST00000561391.2:n.2319C>T
ENST00000682065.1:c.5947C>T ENSP00000507025.1:p.Arg1983Ter
ENST00000682460.1:c.*2348C>T ENSP00000508334.1:n.*2348C>T
ENST00000682495.1:c.*2583C>T ENSP00000507166.1:n.*2583C>T
ENST00000682669.1:c.5890C>T ENSP00000507782.1:p.Arg1964Ter
ENST00000683186.1:c.*2854C>T ENSP00000507268.1:n.*2854C>T
ENST00000683496.1:c.6006+1241C>T ENSP00000506968.1:n.6006+1241C>T
ENST00000683734.1:c.*41C>T ENSP00000508319.1:n.*41C>T
ENST00000683753.1:n.5137C>T
ENST00000684038.1:c.*2511C>T ENSP00000507141.1:n.*2511C>T
ENST00000684235.1:c.6091C>T ENSP00000508295.1:p.Arg2031Ter
ENST00000684676.1:c.*240C>T ENSP00000506948.1:n.*240C>T
ENST00000261866.12:c.6091C>T MANE Select ENSP00000261866.7:p.Arg2031Ter
ENST00000261866.11:c.6091C>T ENSP00000261866.7:p.Arg2031Ter
ENST00000427534.6:c.6091C>T ENSP00000396110.2:p.Arg2031Ter
ENST00000535302.6:c.5867-841C>T ENSP00000445278.2:n.5867-841C>T
ENST00000558080.1:n.456C>T
ENST00000558319.5:c.6091C>T ENSP00000453599.1:p.Arg2031Ter
ENST00000559511.5:c.715-3003C>T
ENST00000559933.1:n.160C>T
ENST00000561268.5:n.23C>T
NM_001160227.1:c.5867-841C>T NP_001153699.1:n.5867-841C>T
NM_025137.3:c.6091C>T NP_079413.3:p.Arg2031Ter
XM_005254695.3:c.5833C>T XP_005254752.1:p.Arg1945Ter
XM_006720700.1:c.5947C>T XP_006720763.1:p.Arg1983Ter
XM_017022634.1:c.6091C>T XP_016878123.1:p.Arg2031Ter
XM_017022636.1:c.2968C>T XP_016878125.1:p.Arg990Ter
NM_025137.4:c.6091C>T MANE Select NP_079413.3:p.Arg2031Ter
NM_001160227.2:c.5867-841C>T NP_001153699.1:n.5867-841C>T