Canonical Allele Identifier: CA392218997

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44867196A>T (hg19) ; chr15:g.44574998A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574998A>T , CM000677.2:g.44574998A>T	GRCh38
NC_000015.9:g.44867196A>T , CM000677.1:g.44867196A>T	GRCh37
NC_000015.8:g.42654488A>T	NCBI36
NG_008885.1:g.93681T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4340T>A	ENSP00000453246.2:n.5867-4340T>A
ENST00000561391.2:n.2138T>A
ENST00000682065.1:c.5766T>A	ENSP00000507025.1:p.Ser1922Arg
ENST00000682460.1:c.*2167T>A	ENSP00000508334.1:n.*2167T>A
ENST00000682495.1:c.*2402T>A	ENSP00000507166.1:n.*2402T>A
ENST00000682669.1:c.5709T>A	ENSP00000507782.1:p.Ser1903Arg
ENST00000683186.1:c.*2673T>A	ENSP00000507268.1:n.*2673T>A
ENST00000683496.1:c.5910T>A	ENSP00000506968.1:p.Ser1970Arg
ENST00000683734.1:c.5867-1253T>A	ENSP00000508319.1:n.5867-1253T>A
ENST00000683753.1:n.4956T>A
ENST00000684038.1:c.*2330T>A	ENSP00000507141.1:n.*2330T>A
ENST00000684235.1:c.5910T>A	ENSP00000508295.1:p.Ser1970Arg
ENST00000684676.1:c.*59T>A	ENSP00000506948.1:n.*59T>A
ENST00000261866.12:c.5910T>A MANE Select	ENSP00000261866.7:p.Ser1970Arg
ENST00000261866.11:c.5910T>A	ENSP00000261866.7:p.Ser1970Arg
ENST00000427534.6:c.5910T>A	ENSP00000396110.2:p.Ser1970Arg
ENST00000535302.6:c.5867-2178T>A	ENSP00000445278.2:n.5867-2178T>A
ENST00000558080.1:n.275T>A
ENST00000558319.5:c.5910T>A	ENSP00000453599.1:p.Ser1970Arg
ENST00000559511.5:c.715-4340T>A
ENST00000559822.1:c.453T>A
NM_001160227.1:c.5867-2178T>A	NP_001153699.1:n.5867-2178T>A
NM_025137.3:c.5910T>A	NP_079413.3:p.Ser1970Arg
XM_005254695.3:c.5652T>A	XP_005254752.1:p.Ser1884Arg
XM_006720700.1:c.5766T>A	XP_006720763.1:p.Ser1922Arg
XM_017022634.1:c.5910T>A	XP_016878123.1:p.Ser1970Arg
XM_017022636.1:c.2787T>A	XP_016878125.1:p.Ser929Arg
NM_025137.4:c.5910T>A MANE Select	NP_079413.3:p.Ser1970Arg
NM_001160227.2:c.5867-2178T>A	NP_001153699.1:n.5867-2178T>A