Canonical Allele Identifier: CA2173685308

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570544C= , CM000677.2:g.44570544C=	GRCh38
NC_000015.9:g.44862742C= , CM000677.1:g.44862742C=	GRCh37
NC_000015.8:g.42650034C=	NCBI36
NG_008885.1:g.98135G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.257G=	ENSP00000453314.2:p.Ser86=
ENST00000559511.6:c.5981G=	ENSP00000453246.2:p.Ser1994=
ENST00000682065.1:c.6314G=	ENSP00000507025.1:p.Ser2105=
ENST00000682460.1:c.*2715G=	ENSP00000508334.1:n.*2715G=
ENST00000682495.1:c.*2950G=	ENSP00000507166.1:n.*2950G=
ENST00000682669.1:c.6257G=	ENSP00000507782.1:p.Ser2086=
ENST00000683186.1:c.*3221G=	ENSP00000507268.1:n.*3221G=
ENST00000683496.1:c.*100G=	ENSP00000506968.1:n.*100G=
ENST00000683734.1:c.*408G=	ENSP00000508319.1:n.*408G=
ENST00000683753.1:n.5504G=
ENST00000684038.1:c.*2878G=	ENSP00000507141.1:n.*2878G=
ENST00000684235.1:c.6458G=	ENSP00000508295.1:p.Ser2153=
ENST00000261866.12:c.6458G= MANE Select	ENSP00000261866.7:p.Ser2153=
ENST00000261866.11:c.6458G=	ENSP00000261866.7:p.Ser2153=
ENST00000427534.6:c.6458G=	ENSP00000396110.2:p.Ser2153=
ENST00000535302.6:c.6119G=	ENSP00000445278.2:p.Ser2040=
ENST00000558138.1:c.257G=	ENSP00000453314.1:p.Ser86=
ENST00000559347.1:n.287G=
ENST00000559511.5:c.829G=
ENST00000561268.5:n.275+2139G=
NM_001160227.1:c.6119G=	NP_001153699.1:p.Ser2040=
NM_025137.3:c.6458G=	NP_079413.3:p.Ser2153=
XM_005254695.3:c.6200G=	XP_005254752.1:p.Ser2067=
XM_006720700.1:c.6314G=	XP_006720763.1:p.Ser2105=
XM_017022634.1:c.6458G=	XP_016878123.1:p.Ser2153=
XM_017022636.1:c.3335G=	XP_016878125.1:p.Ser1112=
NM_025137.4:c.6458G= MANE Select	NP_079413.3:p.Ser2153=
NM_001160227.2:c.6119G=	NP_001153699.1:p.Ser2040=