Canonical Allele Identifier: CA392228515
Community Standard Title: NM_025137.4(SPG11):c.4198C>T (p.Gln1400Ter)
Gene: SPG11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44596319G>A , CM000677.2:g.44596319G>A GRCh38
NC_000015.9:g.44888517G>A , CM000677.1:g.44888517G>A GRCh37
NC_000015.8:g.42675809G>A NCBI36
NG_008885.1:g.72360C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025137.4:c.4198C>T MANE Select NP_079413.3:p.Gln1400Ter
ENST00000261866.12:c.4198C>T MANE Select ENSP00000261866.7:p.Gln1400Ter
NM_001160227.1:c.4198C>T NP_001153699.1:p.Gln1400Ter
NM_001160227.2:c.4198C>T NP_001153699.1:p.Gln1400Ter
NM_025137.3:c.4198C>T NP_079413.3:p.Gln1400Ter
ENST00000261866.11:c.4198C>T ENSP00000261866.7:p.Gln1400Ter
ENST00000427534.6:c.4198C>T ENSP00000396110.2:p.Gln1400Ter
ENST00000535302.6:c.4198C>T ENSP00000445278.2:p.Gln1400Ter
ENST00000558155.1:c.28C>T ENSP00000453238.1:p.Gln10Ter
ENST00000558319.5:c.4198C>T ENSP00000453599.1:p.Gln1400Ter
ENST00000559511.6:c.4198C>T ENSP00000453246.2:p.Gln1400Ter
ENST00000561391.1:n.426C>T
ENST00000561391.2:n.426C>T
ENST00000682065.1:c.4198C>T ENSP00000507025.1:p.Gln1400Ter
ENST00000682460.1:c.*618C>T ENSP00000508334.1:n.*618C>T
ENST00000682495.1:c.*690C>T ENSP00000507166.1:n.*690C>T
ENST00000682669.1:c.3997C>T ENSP00000507782.1:p.Gln1333Ter
ENST00000682788.1:c.4198C>T ENSP00000508089.1:p.Gln1400Ter
ENST00000683121.1:c.4198C>T ENSP00000507557.1:p.Gln1400Ter
ENST00000683186.1:c.*961C>T ENSP00000507268.1:n.*961C>T
ENST00000683496.1:c.4198C>T ENSP00000506968.1:p.Gln1400Ter
ENST00000683734.1:c.4198C>T ENSP00000508319.1:p.Gln1400Ter
ENST00000683753.1:n.3244C>T
ENST00000684038.1:c.*618C>T ENSP00000507141.1:n.*618C>T
ENST00000684235.1:c.4198C>T ENSP00000508295.1:p.Gln1400Ter
ENST00000684676.1:c.4198C>T ENSP00000506948.1:p.Gln1400Ter
XM_005254695.3:c.3940C>T XP_005254752.1:p.Gln1314Ter
XM_006720700.1:c.4198C>T XP_006720763.1:p.Gln1400Ter
XM_006720701.2:c.4198C>T XP_006720764.1:p.Gln1400Ter
XM_006720701.3:c.4198C>T XP_006720764.1:p.Gln1400Ter
XM_017022634.1:c.4198C>T XP_016878123.1:p.Gln1400Ter
XM_017022635.2:c.4198C>T XP_016878124.1:p.Gln1400Ter
XM_017022636.1:c.1075C>T XP_016878125.1:p.Gln359Ter
XR_931917.1:n.4229C>T
XR_931917.2:n.4229C>T