Canonical Allele Identifier: CA2173701377
Gene: SPG11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44598878T= , CM000677.2:g.44598878T= GRCh38
NC_000015.9:g.44891076T= , CM000677.1:g.44891076T= GRCh37
NC_000015.8:g.42678368T= NCBI36
NG_008885.1:g.69801A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.3687-42A= ENSP00000453246.2:n.3687-42A=
ENST00000682065.1:c.3687-42A= ENSP00000507025.1:n.3687-42A=
ENST00000682460.1:c.*107-42A= ENSP00000508334.1:n.*107-42A=
ENST00000682495.1:c.*179-42A= ENSP00000507166.1:n.*179-42A=
ENST00000682669.1:c.3486-42A= ENSP00000507782.1:n.3486-42A=
ENST00000682788.1:c.3687-42A= ENSP00000508089.1:n.3687-42A=
ENST00000682915.1:c.3780-42A= ENSP00000507493.1:n.3780-42A=
ENST00000683121.1:c.3687-42A= ENSP00000507557.1:n.3687-42A=
ENST00000683186.1:c.*450-42A= ENSP00000507268.1:n.*450-42A=
ENST00000683496.1:c.3687-42A= ENSP00000506968.1:n.3687-42A=
ENST00000683734.1:c.3687-42A= ENSP00000508319.1:n.3687-42A=
ENST00000683753.1:n.2733-42A=
ENST00000683838.1:n.761-42A=
ENST00000684038.1:c.*107-42A= ENSP00000507141.1:n.*107-42A=
ENST00000684235.1:c.3687-42A= ENSP00000508295.1:n.3687-42A=
ENST00000684676.1:c.3687-42A= ENSP00000506948.1:n.3687-42A=
ENST00000261866.12:c.3687-42A= MANE Select ENSP00000261866.7:n.3687-42A=
ENST00000261866.11:c.3687-42A= ENSP00000261866.7:n.3687-42A=
ENST00000427534.6:c.3687-42A= ENSP00000396110.2:n.3687-42A=
ENST00000535302.6:c.3687-42A= ENSP00000445278.2:n.3687-42A=
ENST00000558093.1:n.301-42A=
ENST00000558319.5:c.3687-42A= ENSP00000453599.1:n.3687-42A=
NM_001160227.1:c.3687-42A= NP_001153699.1:n.3687-42A=
NM_025137.3:c.3687-42A= NP_079413.3:n.3687-42A=
XM_005254695.3:c.3429-42A= XP_005254752.1:n.3429-42A=
XM_006720700.1:c.3687-42A= XP_006720763.1:n.3687-42A=
XM_006720701.2:c.3687-42A= XP_006720764.1:n.3687-42A=
XM_011522093.1:c.3687-505A= XP_011520395.1:n.3687-505A=
XR_931917.1:n.3718-42A=
XM_006720701.3:c.3687-42A= XP_006720764.1:n.3687-42A=
XM_017022634.1:c.3687-42A= XP_016878123.1:n.3687-42A=
XM_017022635.2:c.3687-42A= XP_016878124.1:n.3687-42A=
XM_017022636.1:c.564-42A= XP_016878125.1:n.564-42A=
XR_001751402.1:n.3718-505A=
XR_931917.2:n.3718-42A=
NM_025137.4:c.3687-42A= MANE Select NP_079413.3:n.3687-42A=
NM_001160227.2:c.3687-42A= NP_001153699.1:n.3687-42A=