Canonical Allele Identifier: CA392218325

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44865861T>A (hg19) ; chr15:g.44573663T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573663T>A , CM000677.2:g.44573663T>A	GRCh38
NC_000015.9:g.44865861T>A , CM000677.1:g.44865861T>A	GRCh37
NC_000015.8:g.42653153T>A	NCBI36
NG_008885.1:g.95016A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-3005A>T	ENSP00000453246.2:n.5867-3005A>T
ENST00000561391.2:n.2317A>T
ENST00000682065.1:c.5945A>T	ENSP00000507025.1:p.Asp1982Val
ENST00000682460.1:c.*2346A>T	ENSP00000508334.1:n.*2346A>T
ENST00000682495.1:c.*2581A>T	ENSP00000507166.1:n.*2581A>T
ENST00000682669.1:c.5888A>T	ENSP00000507782.1:p.Asp1963Val
ENST00000683186.1:c.*2852A>T	ENSP00000507268.1:n.*2852A>T
ENST00000683496.1:c.6006+1239A>T	ENSP00000506968.1:n.6006+1239A>T
ENST00000683734.1:c.*39A>T	ENSP00000508319.1:n.*39A>T
ENST00000683753.1:n.5135A>T
ENST00000684038.1:c.*2509A>T	ENSP00000507141.1:n.*2509A>T
ENST00000684235.1:c.6089A>T	ENSP00000508295.1:p.Asp2030Val
ENST00000684676.1:c.*238A>T	ENSP00000506948.1:n.*238A>T
ENST00000261866.12:c.6089A>T MANE Select	ENSP00000261866.7:p.Asp2030Val
ENST00000261866.11:c.6089A>T	ENSP00000261866.7:p.Asp2030Val
ENST00000427534.6:c.6089A>T	ENSP00000396110.2:p.Asp2030Val
ENST00000535302.6:c.5867-843A>T	ENSP00000445278.2:n.5867-843A>T
ENST00000558080.1:n.454A>T
ENST00000558319.5:c.6089A>T	ENSP00000453599.1:p.Asp2030Val
ENST00000559511.5:c.715-3005A>T
ENST00000559933.1:n.158A>T
ENST00000561268.5:n.21A>T
NM_001160227.1:c.5867-843A>T	NP_001153699.1:n.5867-843A>T
NM_025137.3:c.6089A>T	NP_079413.3:p.Asp2030Val
XM_005254695.3:c.5831A>T	XP_005254752.1:p.Asp1944Val
XM_006720700.1:c.5945A>T	XP_006720763.1:p.Asp1982Val
XM_017022634.1:c.6089A>T	XP_016878123.1:p.Asp2030Val
XM_017022636.1:c.2966A>T	XP_016878125.1:p.Asp989Val
NM_025137.4:c.6089A>T MANE Select	NP_079413.3:p.Asp2030Val
NM_001160227.2:c.5867-843A>T	NP_001153699.1:n.5867-843A>T