Canonical Allele Identifier: CA392230386
Gene: SPG11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44598796A>G , CM000677.2:g.44598796A>G GRCh38
NC_000015.9:g.44890994A>G , CM000677.1:g.44890994A>G GRCh37
NC_000015.8:g.42678286A>G NCBI36
NG_008885.1:g.69883T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.3727T>C ENSP00000453246.2:p.Ser1243Pro
ENST00000682065.1:c.3727T>C ENSP00000507025.1:p.Ser1243Pro
ENST00000682460.1:c.*147T>C ENSP00000508334.1:n.*147T>C
ENST00000682495.1:c.*219T>C ENSP00000507166.1:n.*219T>C
ENST00000682669.1:c.3526T>C ENSP00000507782.1:p.Ser1176Pro
ENST00000682788.1:c.3727T>C ENSP00000508089.1:p.Ser1243Pro
ENST00000682915.1:c.3820T>C ENSP00000507493.1:n.3820T>C
ENST00000683121.1:c.3727T>C ENSP00000507557.1:p.Ser1243Pro
ENST00000683186.1:c.*490T>C ENSP00000507268.1:n.*490T>C
ENST00000683496.1:c.3727T>C ENSP00000506968.1:p.Ser1243Pro
ENST00000683734.1:c.3727T>C ENSP00000508319.1:p.Ser1243Pro
ENST00000683753.1:n.2773T>C
ENST00000683838.1:n.801T>C
ENST00000684038.1:c.*147T>C ENSP00000507141.1:n.*147T>C
ENST00000684235.1:c.3727T>C ENSP00000508295.1:p.Ser1243Pro
ENST00000684676.1:c.3727T>C ENSP00000506948.1:p.Ser1243Pro
ENST00000261866.12:c.3727T>C MANE Select ENSP00000261866.7:p.Ser1243Pro
ENST00000261866.11:c.3727T>C ENSP00000261866.7:p.Ser1243Pro
ENST00000427534.6:c.3727T>C ENSP00000396110.2:p.Ser1243Pro
ENST00000535302.6:c.3727T>C ENSP00000445278.2:p.Ser1243Pro
ENST00000558093.1:n.341T>C
ENST00000558319.5:c.3727T>C ENSP00000453599.1:p.Ser1243Pro
NM_001160227.1:c.3727T>C NP_001153699.1:p.Ser1243Pro
NM_025137.3:c.3727T>C NP_079413.3:p.Ser1243Pro
XM_005254695.3:c.3469T>C XP_005254752.1:p.Ser1157Pro
XM_006720700.1:c.3727T>C XP_006720763.1:p.Ser1243Pro
XM_006720701.2:c.3727T>C XP_006720764.1:p.Ser1243Pro
XM_011522093.1:c.3687-423T>C XP_011520395.1:n.3687-423T>C
XR_931917.1:n.3758T>C
XM_006720701.3:c.3727T>C XP_006720764.1:p.Ser1243Pro
XM_017022634.1:c.3727T>C XP_016878123.1:p.Ser1243Pro
XM_017022635.2:c.3727T>C XP_016878124.1:p.Ser1243Pro
XM_017022636.1:c.604T>C XP_016878125.1:p.Ser202Pro
XR_001751402.1:n.3718-423T>C
XR_931917.2:n.3758T>C
NM_025137.4:c.3727T>C MANE Select NP_079413.3:p.Ser1243Pro
NM_001160227.2:c.3727T>C NP_001153699.1:p.Ser1243Pro