Canonical Allele Identifier: CA2173690279

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44575020T= , CM000677.2:g.44575020T=	GRCh38
NC_000015.9:g.44867218T= , CM000677.1:g.44867218T=	GRCh37
NC_000015.8:g.42654510T=	NCBI36
NG_008885.1:g.93659A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4362A=	ENSP00000453246.2:n.5867-4362A=
ENST00000561391.2:n.2116A=
ENST00000682065.1:c.5744A=	ENSP00000507025.1:p.Lys1915=
ENST00000682460.1:c.*2145A=	ENSP00000508334.1:n.*2145A=
ENST00000682495.1:c.*2380A=	ENSP00000507166.1:n.*2380A=
ENST00000682669.1:c.5687A=	ENSP00000507782.1:p.Lys1896=
ENST00000683186.1:c.*2651A=	ENSP00000507268.1:n.*2651A=
ENST00000683496.1:c.5888A=	ENSP00000506968.1:p.Lys1963=
ENST00000683734.1:c.5867-1275A=	ENSP00000508319.1:n.5867-1275A=
ENST00000683753.1:n.4934A=
ENST00000684038.1:c.*2308A=	ENSP00000507141.1:n.*2308A=
ENST00000684235.1:c.5888A=	ENSP00000508295.1:p.Lys1963=
ENST00000684676.1:c.*37A=	ENSP00000506948.1:n.*37A=
ENST00000261866.12:c.5888A= MANE Select	ENSP00000261866.7:p.Lys1963=
ENST00000261866.11:c.5888A=	ENSP00000261866.7:p.Lys1963=
ENST00000427534.6:c.5888A=	ENSP00000396110.2:p.Lys1963=
ENST00000535302.6:c.5867-2200A=	ENSP00000445278.2:n.5867-2200A=
ENST00000558080.1:n.253A=
ENST00000558319.5:c.5888A=	ENSP00000453599.1:p.Lys1963=
ENST00000559511.5:c.715-4362A=
ENST00000559822.1:c.431A=
NM_001160227.1:c.5867-2200A=	NP_001153699.1:n.5867-2200A=
NM_025137.3:c.5888A=	NP_079413.3:p.Lys1963=
XM_005254695.3:c.5630A=	XP_005254752.1:p.Lys1877=
XM_006720700.1:c.5744A=	XP_006720763.1:p.Lys1915=
XM_017022634.1:c.5888A=	XP_016878123.1:p.Lys1963=
XM_017022636.1:c.2765A=	XP_016878125.1:p.Lys922=
NM_025137.4:c.5888A= MANE Select	NP_079413.3:p.Lys1963=
NM_001160227.2:c.5867-2200A=	NP_001153699.1:n.5867-2200A=