Canonical Allele Identifier: CA2173694778

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44583995A= , CM000677.2:g.44583995A=	GRCh38
NC_000015.9:g.44876193A= , CM000677.1:g.44876193A=	GRCh37
NC_000015.8:g.42663485A=	NCBI36
NG_008885.1:g.84684T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5685T=	ENSP00000453246.2:p.Ser1895=
ENST00000561391.2:n.1913T=
ENST00000682065.1:c.5541T=	ENSP00000507025.1:p.Ser1847=
ENST00000682460.1:c.*1942T=	ENSP00000508334.1:n.*1942T=
ENST00000682495.1:c.*2177T=	ENSP00000507166.1:n.*2177T=
ENST00000682669.1:c.5484T=	ENSP00000507782.1:p.Ser1828=
ENST00000683186.1:c.*2448T=	ENSP00000507268.1:n.*2448T=
ENST00000683496.1:c.5685T=	ENSP00000506968.1:p.Ser1895=
ENST00000683734.1:c.5685T=	ENSP00000508319.1:p.Ser1895=
ENST00000683753.1:n.4731T=
ENST00000684038.1:c.*2105T=	ENSP00000507141.1:n.*2105T=
ENST00000684235.1:c.5685T=	ENSP00000508295.1:p.Ser1895=
ENST00000684676.1:c.5516-60T=	ENSP00000506948.1:n.5516-60T=
ENST00000261866.12:c.5685T= MANE Select	ENSP00000261866.7:p.Ser1895=
ENST00000261866.11:c.5685T=	ENSP00000261866.7:p.Ser1895=
ENST00000427534.6:c.5685T=	ENSP00000396110.2:p.Ser1895=
ENST00000535302.6:c.5685T=	ENSP00000445278.2:p.Ser1895=
ENST00000558319.5:c.5685T=	ENSP00000453599.1:p.Ser1895=
ENST00000559511.5:c.533T=
ENST00000559822.1:c.288-60T=
NM_001160227.1:c.5685T=	NP_001153699.1:p.Ser1895=
NM_025137.3:c.5685T=	NP_079413.3:p.Ser1895=
XM_005254695.3:c.5427T=	XP_005254752.1:p.Ser1809=
XM_006720700.1:c.5541T=	XP_006720763.1:p.Ser1847=
XM_017022634.1:c.5685T=	XP_016878123.1:p.Ser1895=
XM_017022636.1:c.2562T=	XP_016878125.1:p.Ser854=
NM_025137.4:c.5685T= MANE Select	NP_079413.3:p.Ser1895=
NM_001160227.2:c.5685T=	NP_001153699.1:p.Ser1895=