Canonical Allele Identifier: CA7534188

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44572748C>T , CM000677.2:g.44572748C>T	GRCh38
NC_000015.9:g.44864946C>T , CM000677.1:g.44864946C>T	GRCh37
NC_000015.8:g.42652238C>T	NCBI36
NG_008885.1:g.95931G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.6278G>A MANE Select	NP_079413.3:p.Arg2093His
ENST00000261866.12:c.6278G>A MANE Select	ENSP00000261866.7:p.Arg2093His
NM_001160227.1:c.5939G>A	NP_001153699.1:p.Arg1980His
NM_001160227.2:c.5939G>A	NP_001153699.1:p.Arg1980His
NM_025137.3:c.6278G>A	NP_079413.3:p.Arg2093His
ENST00000261866.11:c.6278G>A	ENSP00000261866.7:p.Arg2093His
ENST00000427534.6:c.6278G>A	ENSP00000396110.2:p.Arg2093His
ENST00000535302.6:c.5939G>A	ENSP00000445278.2:p.Arg1980His
ENST00000558138.1:c.77G>A	ENSP00000453314.1:p.Arg26His
ENST00000558138.2:c.77G>A	ENSP00000453314.2:p.Arg26His
ENST00000559511.5:c.715-2090G>A
ENST00000559511.6:c.5867-2090G>A	ENSP00000453246.2:n.5867-2090G>A
ENST00000559933.1:n.347G>A
ENST00000561268.5:n.210G>A
ENST00000682065.1:c.6134G>A	ENSP00000507025.1:p.Arg2045His
ENST00000682460.1:c.*2535G>A	ENSP00000508334.1:n.*2535G>A
ENST00000682495.1:c.*2770G>A	ENSP00000507166.1:n.*2770G>A
ENST00000682669.1:c.6077G>A	ENSP00000507782.1:p.Arg2026His
ENST00000683186.1:c.*3041G>A	ENSP00000507268.1:n.*3041G>A
ENST00000683496.1:c.6007-2096G>A	ENSP00000506968.1:n.6007-2096G>A
ENST00000683734.1:c.*228G>A	ENSP00000508319.1:n.*228G>A
ENST00000683753.1:n.5324G>A
ENST00000684038.1:c.*2698G>A	ENSP00000507141.1:n.*2698G>A
ENST00000684235.1:c.6278G>A	ENSP00000508295.1:p.Arg2093His
XM_005254695.3:c.6020G>A	XP_005254752.1:p.Arg2007His
XM_006720700.1:c.6134G>A	XP_006720763.1:p.Arg2045His
XM_017022634.1:c.6278G>A	XP_016878123.1:p.Arg2093His
XM_017022636.1:c.3155G>A	XP_016878125.1:p.Arg1052His