Canonical Allele Identifier: CA392219181

Gene: SPG11

Linked Data

• ClinVar Variation Id: 2014937
• ClinVar RCV Id: RCV002861733
• MyVariant Identifiers: chr15:g.44867225T>C (hg19) ; chr15:g.44575027T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44575027T>C , CM000677.2:g.44575027T>C	GRCh38
NC_000015.9:g.44867225T>C , CM000677.1:g.44867225T>C	GRCh37
NC_000015.8:g.42654517T>C	NCBI36
NG_008885.1:g.93652A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4369A>G	ENSP00000453246.2:n.5867-4369A>G
ENST00000561391.2:n.2109A>G
ENST00000682065.1:c.5737A>G	ENSP00000507025.1:p.Ser1913Gly
ENST00000682460.1:c.*2138A>G	ENSP00000508334.1:n.*2138A>G
ENST00000682495.1:c.*2373A>G	ENSP00000507166.1:n.*2373A>G
ENST00000682669.1:c.5680A>G	ENSP00000507782.1:p.Ser1894Gly
ENST00000683186.1:c.*2644A>G	ENSP00000507268.1:n.*2644A>G
ENST00000683496.1:c.5881A>G	ENSP00000506968.1:p.Ser1961Gly
ENST00000683734.1:c.5867-1282A>G	ENSP00000508319.1:n.5867-1282A>G
ENST00000683753.1:n.4927A>G
ENST00000684038.1:c.*2301A>G	ENSP00000507141.1:n.*2301A>G
ENST00000684235.1:c.5881A>G	ENSP00000508295.1:p.Ser1961Gly
ENST00000684676.1:c.*30A>G	ENSP00000506948.1:n.*30A>G
ENST00000261866.12:c.5881A>G MANE Select	ENSP00000261866.7:p.Ser1961Gly
ENST00000261866.11:c.5881A>G	ENSP00000261866.7:p.Ser1961Gly
ENST00000427534.6:c.5881A>G	ENSP00000396110.2:p.Ser1961Gly
ENST00000535302.6:c.5867-2207A>G	ENSP00000445278.2:n.5867-2207A>G
ENST00000558080.1:n.246A>G
ENST00000558319.5:c.5881A>G	ENSP00000453599.1:p.Ser1961Gly
ENST00000559511.5:c.715-4369A>G
ENST00000559822.1:c.424A>G
NM_001160227.1:c.5867-2207A>G	NP_001153699.1:n.5867-2207A>G
NM_025137.3:c.5881A>G	NP_079413.3:p.Ser1961Gly
XM_005254695.3:c.5623A>G	XP_005254752.1:p.Ser1875Gly
XM_006720700.1:c.5737A>G	XP_006720763.1:p.Ser1913Gly
XM_017022634.1:c.5881A>G	XP_016878123.1:p.Ser1961Gly
XM_017022636.1:c.2758A>G	XP_016878125.1:p.Ser920Gly
NM_025137.4:c.5881A>G MANE Select	NP_079413.3:p.Ser1961Gly
NM_001160227.2:c.5867-2207A>G	NP_001153699.1:n.5867-2207A>G