Canonical Allele Identifier: CA2173690286

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44575038G= , CM000677.2:g.44575038G=	GRCh38
NC_000015.9:g.44867236G= , CM000677.1:g.44867236G=	GRCh37
NC_000015.8:g.42654528G=	NCBI36
NG_008885.1:g.93641C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4380C=	ENSP00000453246.2:n.5867-4380C=
ENST00000561391.2:n.2098C=
ENST00000682065.1:c.5726C=	ENSP00000507025.1:p.Ser1909=
ENST00000682460.1:c.*2127C=	ENSP00000508334.1:n.*2127C=
ENST00000682495.1:c.*2362C=	ENSP00000507166.1:n.*2362C=
ENST00000682669.1:c.5669C=	ENSP00000507782.1:p.Ser1890=
ENST00000683186.1:c.*2633C=	ENSP00000507268.1:n.*2633C=
ENST00000683496.1:c.5870C=	ENSP00000506968.1:p.Ser1957=
ENST00000683734.1:c.5867-1293C=	ENSP00000508319.1:n.5867-1293C=
ENST00000683753.1:n.4916C=
ENST00000684038.1:c.*2290C=	ENSP00000507141.1:n.*2290C=
ENST00000684235.1:c.5870C=	ENSP00000508295.1:p.Ser1957=
ENST00000684676.1:c.*19C=	ENSP00000506948.1:n.*19C=
ENST00000261866.12:c.5870C= MANE Select	ENSP00000261866.7:p.Ser1957=
ENST00000261866.11:c.5870C=	ENSP00000261866.7:p.Ser1957=
ENST00000427534.6:c.5870C=	ENSP00000396110.2:p.Ser1957=
ENST00000535302.6:c.5867-2218C=	ENSP00000445278.2:n.5867-2218C=
ENST00000558080.1:n.235C=
ENST00000558319.5:c.5870C=	ENSP00000453599.1:p.Ser1957=
ENST00000559511.5:c.715-4380C=
ENST00000559822.1:c.413C=
NM_001160227.1:c.5867-2218C=	NP_001153699.1:n.5867-2218C=
NM_025137.3:c.5870C=	NP_079413.3:p.Ser1957=
XM_005254695.3:c.5612C=	XP_005254752.1:p.Ser1871=
XM_006720700.1:c.5726C=	XP_006720763.1:p.Ser1909=
XM_017022634.1:c.5870C=	XP_016878123.1:p.Ser1957=
XM_017022636.1:c.2747C=	XP_016878125.1:p.Ser916=
NM_025137.4:c.5870C= MANE Select	NP_079413.3:p.Ser1957=
NM_001160227.2:c.5867-2218C=	NP_001153699.1:n.5867-2218C=