Canonical Allele Identifier: CA2173686024

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584260G= , CM000677.2:g.44584260G=	GRCh38
NC_000015.9:g.44876458G= , CM000677.1:g.44876458G=	GRCh37
NC_000015.8:g.42663750G=	NCBI36
NG_008885.1:g.84419C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5420C=	ENSP00000453246.2:p.Thr1807=
ENST00000561391.2:n.1648C=
ENST00000682065.1:c.5276C=	ENSP00000507025.1:p.Thr1759=
ENST00000682460.1:c.*1677C=	ENSP00000508334.1:n.*1677C=
ENST00000682495.1:c.*1912C=	ENSP00000507166.1:n.*1912C=
ENST00000682669.1:c.5219C=	ENSP00000507782.1:p.Thr1740=
ENST00000683186.1:c.*2183C=	ENSP00000507268.1:n.*2183C=
ENST00000683496.1:c.5420C=	ENSP00000506968.1:p.Thr1807=
ENST00000683734.1:c.5420C=	ENSP00000508319.1:p.Thr1807=
ENST00000683753.1:n.4466C=
ENST00000684038.1:c.*1840C=	ENSP00000507141.1:n.*1840C=
ENST00000684235.1:c.5420C=	ENSP00000508295.1:p.Thr1807=
ENST00000684676.1:c.5420C=	ENSP00000506948.1:p.Thr1807=
ENST00000261866.12:c.5420C= MANE Select	ENSP00000261866.7:p.Thr1807=
ENST00000261866.11:c.5420C=	ENSP00000261866.7:p.Thr1807=
ENST00000427534.6:c.5420C=	ENSP00000396110.2:p.Thr1807=
ENST00000535302.6:c.5420C=	ENSP00000445278.2:p.Thr1807=
ENST00000558319.5:c.5420C=	ENSP00000453599.1:p.Thr1807=
ENST00000558790.5:n.857C=
ENST00000559511.5:c.268C=
ENST00000559822.1:c.192C=
NM_001160227.1:c.5420C=	NP_001153699.1:p.Thr1807=
NM_025137.3:c.5420C=	NP_079413.3:p.Thr1807=
XM_005254695.3:c.5162C=	XP_005254752.1:p.Thr1721=
XM_006720700.1:c.5276C=	XP_006720763.1:p.Thr1759=
XM_017022634.1:c.5420C=	XP_016878123.1:p.Thr1807=
XM_017022636.1:c.2297C=	XP_016878125.1:p.Thr766=
XR_931917.2:n.5474C=
NM_025137.4:c.5420C= MANE Select	NP_079413.3:p.Thr1807=
NM_001160227.2:c.5420C=	NP_001153699.1:p.Thr1807=