Canonical Allele Identifier: CA2173685806

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584185A= , CM000677.2:g.44584185A=	GRCh38
NC_000015.9:g.44876383A= , CM000677.1:g.44876383A=	GRCh37
NC_000015.8:g.42663675A=	NCBI36
NG_008885.1:g.84494T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5495T=	ENSP00000453246.2:p.Leu1832=
ENST00000561391.2:n.1723T=
ENST00000682065.1:c.5351T=	ENSP00000507025.1:p.Leu1784=
ENST00000682460.1:c.*1752T=	ENSP00000508334.1:n.*1752T=
ENST00000682495.1:c.*1987T=	ENSP00000507166.1:n.*1987T=
ENST00000682669.1:c.5294T=	ENSP00000507782.1:p.Leu1765=
ENST00000683186.1:c.*2258T=	ENSP00000507268.1:n.*2258T=
ENST00000683496.1:c.5495T=	ENSP00000506968.1:p.Leu1832=
ENST00000683734.1:c.5495T=	ENSP00000508319.1:p.Leu1832=
ENST00000683753.1:n.4541T=
ENST00000684038.1:c.*1915T=	ENSP00000507141.1:n.*1915T=
ENST00000684235.1:c.5495T=	ENSP00000508295.1:p.Leu1832=
ENST00000684676.1:c.5495T=	ENSP00000506948.1:p.Leu1832=
ENST00000261866.12:c.5495T= MANE Select	ENSP00000261866.7:p.Leu1832=
ENST00000261866.11:c.5495T=	ENSP00000261866.7:p.Leu1832=
ENST00000427534.6:c.5495T=	ENSP00000396110.2:p.Leu1832=
ENST00000535302.6:c.5495T=	ENSP00000445278.2:p.Leu1832=
ENST00000558319.5:c.5495T=	ENSP00000453599.1:p.Leu1832=
ENST00000559511.5:c.343T=
ENST00000559822.1:c.267T=
NM_001160227.1:c.5495T=	NP_001153699.1:p.Leu1832=
NM_025137.3:c.5495T=	NP_079413.3:p.Leu1832=
XM_005254695.3:c.5237T=	XP_005254752.1:p.Leu1746=
XM_006720700.1:c.5351T=	XP_006720763.1:p.Leu1784=
XM_017022634.1:c.5495T=	XP_016878123.1:p.Leu1832=
XM_017022636.1:c.2372T=	XP_016878125.1:p.Leu791=
NM_025137.4:c.5495T= MANE Select	NP_079413.3:p.Leu1832=
NM_001160227.2:c.5495T=	NP_001153699.1:p.Leu1832=