Canonical Allele Identifier: CA2173685740

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584142C= , CM000677.2:g.44584142C=	GRCh38
NC_000015.9:g.44876340C= , CM000677.1:g.44876340C=	GRCh37
NC_000015.8:g.42663632C=	NCBI36
NG_008885.1:g.84537G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5538G=	ENSP00000453246.2:p.Leu1846=
ENST00000561391.2:n.1766G=
ENST00000682065.1:c.5394G=	ENSP00000507025.1:p.Leu1798=
ENST00000682460.1:c.*1795G=	ENSP00000508334.1:n.*1795G=
ENST00000682495.1:c.*2030G=	ENSP00000507166.1:n.*2030G=
ENST00000682669.1:c.5337G=	ENSP00000507782.1:p.Leu1779=
ENST00000683186.1:c.*2301G=	ENSP00000507268.1:n.*2301G=
ENST00000683496.1:c.5538G=	ENSP00000506968.1:p.Leu1846=
ENST00000683734.1:c.5538G=	ENSP00000508319.1:p.Leu1846=
ENST00000683753.1:n.4584G=
ENST00000684038.1:c.*1958G=	ENSP00000507141.1:n.*1958G=
ENST00000684235.1:c.5538G=	ENSP00000508295.1:p.Leu1846=
ENST00000684676.1:c.5515+23G=	ENSP00000506948.1:n.5515+23G=
ENST00000261866.12:c.5538G= MANE Select	ENSP00000261866.7:p.Leu1846=
ENST00000261866.11:c.5538G=	ENSP00000261866.7:p.Leu1846=
ENST00000427534.6:c.5538G=	ENSP00000396110.2:p.Leu1846=
ENST00000535302.6:c.5538G=	ENSP00000445278.2:p.Leu1846=
ENST00000558319.5:c.5538G=	ENSP00000453599.1:p.Leu1846=
ENST00000559511.5:c.386G=
ENST00000559822.1:c.287+23G=
NM_001160227.1:c.5538G=	NP_001153699.1:p.Leu1846=
NM_025137.3:c.5538G=	NP_079413.3:p.Leu1846=
XM_005254695.3:c.5280G=	XP_005254752.1:p.Leu1760=
XM_006720700.1:c.5394G=	XP_006720763.1:p.Leu1798=
XM_017022634.1:c.5538G=	XP_016878123.1:p.Leu1846=
XM_017022636.1:c.2415G=	XP_016878125.1:p.Leu805=
NM_025137.4:c.5538G= MANE Select	NP_079413.3:p.Leu1846=
NM_001160227.2:c.5538G=	NP_001153699.1:p.Leu1846=