Canonical Allele Identifier: CA392218637

Gene: SPG11

Linked Data

• COSMIC: COSM6396226 ; COSM6396227
• MyVariant Identifiers: chr15:g.44867128T>C (hg19) ; chr15:g.44574930T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574930T>C , CM000677.2:g.44574930T>C	GRCh38
NC_000015.9:g.44867128T>C , CM000677.1:g.44867128T>C	GRCh37
NC_000015.8:g.42654420T>C	NCBI36
NG_008885.1:g.93749A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4272A>G	ENSP00000453246.2:n.5867-4272A>G
ENST00000561391.2:n.2206A>G
ENST00000682065.1:c.5834A>G	ENSP00000507025.1:p.Gln1945Arg
ENST00000682460.1:c.*2235A>G	ENSP00000508334.1:n.*2235A>G
ENST00000682495.1:c.*2470A>G	ENSP00000507166.1:n.*2470A>G
ENST00000682669.1:c.5777A>G	ENSP00000507782.1:p.Gln1926Arg
ENST00000683186.1:c.*2741A>G	ENSP00000507268.1:n.*2741A>G
ENST00000683496.1:c.5978A>G	ENSP00000506968.1:p.Gln1993Arg
ENST00000683734.1:c.5867-1185A>G	ENSP00000508319.1:n.5867-1185A>G
ENST00000683753.1:n.5024A>G
ENST00000684038.1:c.*2398A>G	ENSP00000507141.1:n.*2398A>G
ENST00000684235.1:c.5978A>G	ENSP00000508295.1:p.Gln1993Arg
ENST00000684676.1:c.*127A>G	ENSP00000506948.1:n.*127A>G
ENST00000261866.12:c.5978A>G MANE Select	ENSP00000261866.7:p.Gln1993Arg
ENST00000261866.11:c.5978A>G	ENSP00000261866.7:p.Gln1993Arg
ENST00000427534.6:c.5978A>G	ENSP00000396110.2:p.Gln1993Arg
ENST00000535302.6:c.5867-2110A>G	ENSP00000445278.2:n.5867-2110A>G
ENST00000558080.1:n.343A>G
ENST00000558319.5:c.5978A>G	ENSP00000453599.1:p.Gln1993Arg
ENST00000559511.5:c.715-4272A>G
ENST00000559822.1:c.521A>G
NM_001160227.1:c.5867-2110A>G	NP_001153699.1:n.5867-2110A>G
NM_025137.3:c.5978A>G	NP_079413.3:p.Gln1993Arg
XM_005254695.3:c.5720A>G	XP_005254752.1:p.Gln1907Arg
XM_006720700.1:c.5834A>G	XP_006720763.1:p.Gln1945Arg
XM_017022634.1:c.5978A>G	XP_016878123.1:p.Gln1993Arg
XM_017022636.1:c.2855A>G	XP_016878125.1:p.Gln952Arg
NM_025137.4:c.5978A>G MANE Select	NP_079413.3:p.Gln1993Arg
NM_001160227.2:c.5867-2110A>G	NP_001153699.1:n.5867-2110A>G