Canonical Allele Identifier: CA392218183

Gene: SPG11

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573595C>A , CM000677.2:g.44573595C>A	GRCh38
NC_000015.9:g.44865793C>A , CM000677.1:g.44865793C>A	GRCh37
NC_000015.8:g.42653085C>A	NCBI36
NG_008885.1:g.95084G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-2937G>T	ENSP00000453246.2:n.5867-2937G>T
ENST00000561391.2:n.2385G>T
ENST00000682065.1:c.6013G>T	ENSP00000507025.1:p.Val2005Leu
ENST00000682460.1:c.*2414G>T	ENSP00000508334.1:n.*2414G>T
ENST00000682495.1:c.*2649G>T	ENSP00000507166.1:n.*2649G>T
ENST00000682669.1:c.5956G>T	ENSP00000507782.1:p.Val1986Leu
ENST00000683186.1:c.*2920G>T	ENSP00000507268.1:n.*2920G>T
ENST00000683496.1:c.6006+1307G>T	ENSP00000506968.1:n.6006+1307G>T
ENST00000683734.1:c.*107G>T	ENSP00000508319.1:n.*107G>T
ENST00000683753.1:n.5203G>T
ENST00000684038.1:c.*2577G>T	ENSP00000507141.1:n.*2577G>T
ENST00000684235.1:c.6157G>T	ENSP00000508295.1:p.Val2053Leu
ENST00000684676.1:c.*306G>T	ENSP00000506948.1:n.*306G>T
ENST00000261866.12:c.6157G>T MANE Select	ENSP00000261866.7:p.Val2053Leu
ENST00000261866.11:c.6157G>T	ENSP00000261866.7:p.Val2053Leu
ENST00000427534.6:c.6157G>T	ENSP00000396110.2:p.Val2053Leu
ENST00000535302.6:c.5867-775G>T	ENSP00000445278.2:n.5867-775G>T
ENST00000558080.1:n.522G>T
ENST00000558319.5:c.6157G>T	ENSP00000453599.1:p.Val2053Leu
ENST00000559511.5:c.715-2937G>T
ENST00000559933.1:n.226G>T
ENST00000561268.5:n.89G>T
NM_001160227.1:c.5867-775G>T	NP_001153699.1:n.5867-775G>T
NM_025137.3:c.6157G>T	NP_079413.3:p.Val2053Leu
XM_005254695.3:c.5899G>T	XP_005254752.1:p.Val1967Leu
XM_006720700.1:c.6013G>T	XP_006720763.1:p.Val2005Leu
XM_017022634.1:c.6157G>T	XP_016878123.1:p.Val2053Leu
XM_017022636.1:c.3034G>T	XP_016878125.1:p.Val1012Leu
NM_025137.4:c.6157G>T MANE Select	NP_079413.3:p.Val2053Leu
NM_001160227.2:c.5867-775G>T	NP_001153699.1:n.5867-775G>T