Canonical Allele Identifier: CA7534419
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 534882
dbSNP Id: rs201254271

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44584288C>T , CM000677.2:g.44584288C>T GRCh38
NC_000015.9:g.44876486C>T , CM000677.1:g.44876486C>T GRCh37
NC_000015.8:g.42663778C>T NCBI36
NG_008885.1:g.84391G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.5392G>A ENSP00000453246.2:p.Glu1798Lys
ENST00000561391.2:n.1620G>A
ENST00000682065.1:c.5248G>A ENSP00000507025.1:p.Glu1750Lys
ENST00000682460.1:c.*1649G>A ENSP00000508334.1:n.*1649G>A
ENST00000682495.1:c.*1884G>A ENSP00000507166.1:n.*1884G>A
ENST00000682669.1:c.5191G>A ENSP00000507782.1:p.Glu1731Lys
ENST00000683186.1:c.*2155G>A ENSP00000507268.1:n.*2155G>A
ENST00000683496.1:c.5392G>A ENSP00000506968.1:p.Glu1798Lys
ENST00000683734.1:c.5392G>A ENSP00000508319.1:p.Glu1798Lys
ENST00000683753.1:n.4438G>A
ENST00000684038.1:c.*1812G>A ENSP00000507141.1:n.*1812G>A
ENST00000684235.1:c.5392G>A ENSP00000508295.1:p.Glu1798Lys
ENST00000684676.1:c.5392G>A ENSP00000506948.1:p.Glu1798Lys
ENST00000261866.12:c.5392G>A MANE Select ENSP00000261866.7:p.Glu1798Lys
ENST00000261866.11:c.5392G>A ENSP00000261866.7:p.Glu1798Lys
ENST00000427534.6:c.5392G>A ENSP00000396110.2:p.Glu1798Lys
ENST00000535302.6:c.5392G>A ENSP00000445278.2:p.Glu1798Lys
ENST00000558319.5:c.5392G>A ENSP00000453599.1:p.Glu1798Lys
ENST00000558790.5:n.829G>A
ENST00000559511.5:c.240G>A
ENST00000559822.1:c.164G>A
NM_001160227.1:c.5392G>A NP_001153699.1:p.Glu1798Lys
NM_025137.3:c.5392G>A NP_079413.3:p.Glu1798Lys
XM_005254695.3:c.5134G>A XP_005254752.1:p.Glu1712Lys
XM_006720700.1:c.5248G>A XP_006720763.1:p.Glu1750Lys
XM_017022634.1:c.5392G>A XP_016878123.1:p.Glu1798Lys
XM_017022636.1:c.2269G>A XP_016878125.1:p.Glu757Lys
XR_931917.2:n.5446G>A
NM_025137.4:c.5392G>A MANE Select NP_079413.3:p.Glu1798Lys
NM_001160227.2:c.5392G>A NP_001153699.1:p.Glu1798Lys