Canonical Allele Identifier: CA392227662
Community Standard Title: NM_025137.4(SPG11):c.4339C>T (p.Gln1447Ter)
Gene: SPG11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44596178G>A , CM000677.2:g.44596178G>A GRCh38
NC_000015.9:g.44888376G>A , CM000677.1:g.44888376G>A GRCh37
NC_000015.8:g.42675668G>A NCBI36
NG_008885.1:g.72501C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025137.4:c.4339C>T MANE Select NP_079413.3:p.Gln1447Ter
ENST00000261866.12:c.4339C>T MANE Select ENSP00000261866.7:p.Gln1447Ter
NM_001160227.1:c.4339C>T NP_001153699.1:p.Gln1447Ter
NM_001160227.2:c.4339C>T NP_001153699.1:p.Gln1447Ter
NM_025137.3:c.4339C>T NP_079413.3:p.Gln1447Ter
ENST00000261866.11:c.4339C>T ENSP00000261866.7:p.Gln1447Ter
ENST00000427534.6:c.4339C>T ENSP00000396110.2:p.Gln1447Ter
ENST00000535302.6:c.4339C>T ENSP00000445278.2:p.Gln1447Ter
ENST00000558155.1:c.169C>T ENSP00000453238.1:p.Gln57Ter
ENST00000558319.5:c.4339C>T ENSP00000453599.1:p.Gln1447Ter
ENST00000559511.6:c.4339C>T ENSP00000453246.2:p.Gln1447Ter
ENST00000561391.1:n.567C>T
ENST00000561391.2:n.567C>T
ENST00000682065.1:c.4339C>T ENSP00000507025.1:p.Gln1447Ter
ENST00000682460.1:c.*759C>T ENSP00000508334.1:n.*759C>T
ENST00000682495.1:c.*831C>T ENSP00000507166.1:n.*831C>T
ENST00000682669.1:c.4138C>T ENSP00000507782.1:p.Gln1380Ter
ENST00000682788.1:c.4339C>T ENSP00000508089.1:p.Gln1447Ter
ENST00000683121.1:c.4339C>T ENSP00000507557.1:p.Gln1447Ter
ENST00000683186.1:c.*1102C>T ENSP00000507268.1:n.*1102C>T
ENST00000683496.1:c.4339C>T ENSP00000506968.1:p.Gln1447Ter
ENST00000683734.1:c.4339C>T ENSP00000508319.1:p.Gln1447Ter
ENST00000683753.1:n.3385C>T
ENST00000684038.1:c.*759C>T ENSP00000507141.1:n.*759C>T
ENST00000684235.1:c.4339C>T ENSP00000508295.1:p.Gln1447Ter
ENST00000684676.1:c.4339C>T ENSP00000506948.1:p.Gln1447Ter
XM_005254695.3:c.4081C>T XP_005254752.1:p.Gln1361Ter
XM_006720700.1:c.4339C>T XP_006720763.1:p.Gln1447Ter
XM_006720701.2:c.4339C>T XP_006720764.1:p.Gln1447Ter
XM_006720701.3:c.4339C>T XP_006720764.1:p.Gln1447Ter
XM_017022634.1:c.4339C>T XP_016878123.1:p.Gln1447Ter
XM_017022635.2:c.4339C>T XP_016878124.1:p.Gln1447Ter
XM_017022636.1:c.1216C>T XP_016878125.1:p.Gln406Ter
XR_931917.1:n.4370C>T
XR_931917.2:n.4370C>T