Canonical Allele Identifier: CA2173686850
Gene: SPG11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44584558T= , CM000677.2:g.44584558T= GRCh38
NC_000015.9:g.44876756T= , CM000677.1:g.44876756T= GRCh37
NC_000015.8:g.42664048T= NCBI36
NG_008885.1:g.84121A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.5122A= ENSP00000453246.2:p.Ile1708=
ENST00000561391.2:n.1350A=
ENST00000682065.1:c.5122-144A= ENSP00000507025.1:n.5122-144A=
ENST00000682460.1:c.*1379A= ENSP00000508334.1:n.*1379A=
ENST00000682495.1:c.*1614A= ENSP00000507166.1:n.*1614A=
ENST00000682669.1:c.4921A= ENSP00000507782.1:p.Ile1641=
ENST00000683186.1:c.*1885A= ENSP00000507268.1:n.*1885A=
ENST00000683496.1:c.5122A= ENSP00000506968.1:p.Ile1708=
ENST00000683734.1:c.5122A= ENSP00000508319.1:p.Ile1708=
ENST00000683753.1:n.4168A=
ENST00000684038.1:c.*1542A= ENSP00000507141.1:n.*1542A=
ENST00000684235.1:c.5122A= ENSP00000508295.1:p.Ile1708=
ENST00000684676.1:c.5122A= ENSP00000506948.1:p.Ile1708=
ENST00000261866.12:c.5122A= MANE Select ENSP00000261866.7:p.Ile1708=
ENST00000261866.11:c.5122A= ENSP00000261866.7:p.Ile1708=
ENST00000427534.6:c.5122A= ENSP00000396110.2:p.Ile1708=
ENST00000535302.6:c.5122A= ENSP00000445278.2:p.Ile1708=
ENST00000558319.5:c.5122A= ENSP00000453599.1:p.Ile1708=
ENST00000558790.5:n.559A=
NM_001160227.1:c.5122A= NP_001153699.1:p.Ile1708=
NM_025137.3:c.5122A= NP_079413.3:p.Ile1708=
XM_005254695.3:c.4864A= XP_005254752.1:p.Ile1622=
XM_006720700.1:c.5122-144A= XP_006720763.1:n.5122-144A=
XM_017022634.1:c.5122A= XP_016878123.1:p.Ile1708=
XM_017022636.1:c.1999A= XP_016878125.1:p.Ile667=
XR_931917.2:n.5176A=
NM_025137.4:c.5122A= MANE Select NP_079413.3:p.Ile1708=
NM_001160227.2:c.5122A= NP_001153699.1:p.Ile1708=