Canonical Allele Identifier: CA2173685351

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570555G= , CM000677.2:g.44570555G=	GRCh38
NC_000015.9:g.44862753G= , CM000677.1:g.44862753G=	GRCh37
NC_000015.8:g.42650045G=	NCBI36
NG_008885.1:g.98124C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.246C=	ENSP00000453314.2:p.His82=
ENST00000559511.6:c.5970C=	ENSP00000453246.2:p.His1990=
ENST00000682065.1:c.6303C=	ENSP00000507025.1:p.His2101=
ENST00000682460.1:c.*2704C=	ENSP00000508334.1:n.*2704C=
ENST00000682495.1:c.*2939C=	ENSP00000507166.1:n.*2939C=
ENST00000682669.1:c.6246C=	ENSP00000507782.1:p.His2082=
ENST00000683186.1:c.*3210C=	ENSP00000507268.1:n.*3210C=
ENST00000683496.1:c.*89C=	ENSP00000506968.1:n.*89C=
ENST00000683734.1:c.*397C=	ENSP00000508319.1:n.*397C=
ENST00000683753.1:n.5493C=
ENST00000684038.1:c.*2867C=	ENSP00000507141.1:n.*2867C=
ENST00000684235.1:c.6447C=	ENSP00000508295.1:p.His2149=
ENST00000261866.12:c.6447C= MANE Select	ENSP00000261866.7:p.His2149=
ENST00000261866.11:c.6447C=	ENSP00000261866.7:p.His2149=
ENST00000427534.6:c.6447C=	ENSP00000396110.2:p.His2149=
ENST00000535302.6:c.6108C=	ENSP00000445278.2:p.His2036=
ENST00000558138.1:c.246C=	ENSP00000453314.1:p.His82=
ENST00000559347.1:n.276C=
ENST00000559511.5:c.818C=
ENST00000559933.1:n.516C=
ENST00000561268.5:n.275+2128C=
NM_001160227.1:c.6108C=	NP_001153699.1:p.His2036=
NM_025137.3:c.6447C=	NP_079413.3:p.His2149=
XM_005254695.3:c.6189C=	XP_005254752.1:p.His2063=
XM_006720700.1:c.6303C=	XP_006720763.1:p.His2101=
XM_017022634.1:c.6447C=	XP_016878123.1:p.His2149=
XM_017022636.1:c.3324C=	XP_016878125.1:p.His1108=
NM_025137.4:c.6447C= MANE Select	NP_079413.3:p.His2149=
NM_001160227.2:c.6108C=	NP_001153699.1:p.His2036=