Canonical Allele Identifier: CA392218196
Community Standard Title: NM_025137.4(SPG11):c.6151G>T (p.Glu2051Ter)
Gene: SPG11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44573601C>A , CM000677.2:g.44573601C>A GRCh38
NC_000015.9:g.44865799C>A , CM000677.1:g.44865799C>A GRCh37
NC_000015.8:g.42653091C>A NCBI36
NG_008885.1:g.95078G>T

Transcript Alleles

HGVS Amino-acid Change
NM_025137.4:c.6151G>T MANE Select NP_079413.3:p.Glu2051Ter
ENST00000261866.12:c.6151G>T MANE Select ENSP00000261866.7:p.Glu2051Ter
NM_001160227.1:c.5867-781G>T NP_001153699.1:n.5867-781G>T
NM_001160227.2:c.5867-781G>T NP_001153699.1:n.5867-781G>T
NM_025137.3:c.6151G>T NP_079413.3:p.Glu2051Ter
ENST00000261866.11:c.6151G>T ENSP00000261866.7:p.Glu2051Ter
ENST00000427534.6:c.6151G>T ENSP00000396110.2:p.Glu2051Ter
ENST00000535302.6:c.5867-781G>T ENSP00000445278.2:n.5867-781G>T
ENST00000558080.1:n.516G>T
ENST00000558319.5:c.6151G>T ENSP00000453599.1:p.Glu2051Ter
ENST00000559511.5:c.715-2943G>T
ENST00000559511.6:c.5867-2943G>T ENSP00000453246.2:n.5867-2943G>T
ENST00000559933.1:n.220G>T
ENST00000561268.5:n.83G>T
ENST00000561391.2:n.2379G>T
ENST00000682065.1:c.6007G>T ENSP00000507025.1:p.Glu2003Ter
ENST00000682460.1:c.*2408G>T ENSP00000508334.1:n.*2408G>T
ENST00000682495.1:c.*2643G>T ENSP00000507166.1:n.*2643G>T
ENST00000682669.1:c.5950G>T ENSP00000507782.1:p.Glu1984Ter
ENST00000683186.1:c.*2914G>T ENSP00000507268.1:n.*2914G>T
ENST00000683496.1:c.6006+1301G>T ENSP00000506968.1:n.6006+1301G>T
ENST00000683734.1:c.*101G>T ENSP00000508319.1:n.*101G>T
ENST00000683753.1:n.5197G>T
ENST00000684038.1:c.*2571G>T ENSP00000507141.1:n.*2571G>T
ENST00000684235.1:c.6151G>T ENSP00000508295.1:p.Glu2051Ter
ENST00000684676.1:c.*300G>T ENSP00000506948.1:n.*300G>T
XM_005254695.3:c.5893G>T XP_005254752.1:p.Glu1965Ter
XM_006720700.1:c.6007G>T XP_006720763.1:p.Glu2003Ter
XM_017022634.1:c.6151G>T XP_016878123.1:p.Glu2051Ter
XM_017022636.1:c.3028G>T XP_016878125.1:p.Glu1010Ter