Canonical Allele Identifier: CA7534064

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44567580T>A , CM000677.2:g.44567580T>A	GRCh38
NC_000015.9:g.44859778T>A , CM000677.1:g.44859778T>A	GRCh37
NC_000015.8:g.42647070T>A	NCBI36
NG_008885.1:g.101099A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.6598A>T MANE Select	NP_079413.3:p.Lys2200Ter
ENST00000261866.12:c.6598A>T MANE Select	ENSP00000261866.7:p.Lys2200Ter
NM_001160227.1:c.6259A>T	NP_001153699.1:p.Lys2087Ter
NM_001160227.2:c.6259A>T	NP_001153699.1:p.Lys2087Ter
NM_025137.3:c.6598A>T	NP_079413.3:p.Lys2200Ter
ENST00000261866.11:c.6598A>T	ENSP00000261866.7:p.Lys2200Ter
ENST00000427534.6:c.6598A>T	ENSP00000396110.2:p.Lys2200Ter
ENST00000535302.6:c.6259A>T	ENSP00000445278.2:p.Lys2087Ter
ENST00000558138.1:c.289A>T	ENSP00000453314.1:p.Lys97Ter
ENST00000558138.2:c.289A>T	ENSP00000453314.2:p.Lys97Ter
ENST00000559347.1:n.427A>T
ENST00000559511.5:c.969A>T
ENST00000559511.6:c.6121A>T	ENSP00000453246.2:p.Lys2041Ter
ENST00000561268.5:n.288A>T
ENST00000682065.1:c.6454A>T	ENSP00000507025.1:p.Lys2152Ter
ENST00000682460.1:c.*2855A>T	ENSP00000508334.1:n.*2855A>T
ENST00000682495.1:c.*3090A>T	ENSP00000507166.1:n.*3090A>T
ENST00000682669.1:c.6397A>T	ENSP00000507782.1:p.Lys2133Ter
ENST00000683186.1:c.*3361A>T	ENSP00000507268.1:n.*3361A>T
ENST00000683496.1:c.*240A>T	ENSP00000506968.1:n.*240A>T
ENST00000683734.1:c.*548A>T	ENSP00000508319.1:n.*548A>T
ENST00000683753.1:n.5644A>T
ENST00000684038.1:c.*3018A>T	ENSP00000507141.1:n.*3018A>T
ENST00000684235.1:c.6598A>T	ENSP00000508295.1:p.Lys2200Ter
XM_005254695.3:c.6340A>T	XP_005254752.1:p.Lys2114Ter
XM_006720700.1:c.6454A>T	XP_006720763.1:p.Lys2152Ter
XM_017022634.1:c.6490A>T	XP_016878123.1:p.Lys2164Ter
XM_017022636.1:c.3475A>T	XP_016878125.1:p.Lys1159Ter