Canonical Allele Identifier: CA2173689589

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573674A= , CM000677.2:g.44573674A=	GRCh38
NC_000015.9:g.44865872A= , CM000677.1:g.44865872A=	GRCh37
NC_000015.8:g.42653164A=	NCBI36
NG_008885.1:g.95005T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-3016T=	ENSP00000453246.2:n.5867-3016T=
ENST00000561391.2:n.2306T=
ENST00000682065.1:c.5934T=	ENSP00000507025.1:p.Ser1978=
ENST00000682460.1:c.*2335T=	ENSP00000508334.1:n.*2335T=
ENST00000682495.1:c.*2570T=	ENSP00000507166.1:n.*2570T=
ENST00000682669.1:c.5877T=	ENSP00000507782.1:p.Ser1959=
ENST00000683186.1:c.*2841T=	ENSP00000507268.1:n.*2841T=
ENST00000683496.1:c.6006+1228T=	ENSP00000506968.1:n.6006+1228T=
ENST00000683734.1:c.*28T=	ENSP00000508319.1:n.*28T=
ENST00000683753.1:n.5124T=
ENST00000684038.1:c.*2498T=	ENSP00000507141.1:n.*2498T=
ENST00000684235.1:c.6078T=	ENSP00000508295.1:p.Ser2026=
ENST00000684676.1:c.*227T=	ENSP00000506948.1:n.*227T=
ENST00000261866.12:c.6078T= MANE Select	ENSP00000261866.7:p.Ser2026=
ENST00000261866.11:c.6078T=	ENSP00000261866.7:p.Ser2026=
ENST00000427534.6:c.6078T=	ENSP00000396110.2:p.Ser2026=
ENST00000535302.6:c.5867-854T=	ENSP00000445278.2:n.5867-854T=
ENST00000558080.1:n.443T=
ENST00000558319.5:c.6078T=	ENSP00000453599.1:p.Ser2026=
ENST00000559511.5:c.715-3016T=
ENST00000559933.1:n.147T=
ENST00000561268.5:n.10T=
NM_001160227.1:c.5867-854T=	NP_001153699.1:n.5867-854T=
NM_025137.3:c.6078T=	NP_079413.3:p.Ser2026=
XM_005254695.3:c.5820T=	XP_005254752.1:p.Ser1940=
XM_006720700.1:c.5934T=	XP_006720763.1:p.Ser1978=
XM_017022634.1:c.6078T=	XP_016878123.1:p.Ser2026=
XM_017022636.1:c.2955T=	XP_016878125.1:p.Ser985=
NM_025137.4:c.6078T= MANE Select	NP_079413.3:p.Ser2026=
NM_001160227.2:c.5867-854T=	NP_001153699.1:n.5867-854T=