Canonical Allele Identifier: CA392222106

Gene: SPG11

Linked Data

• ClinVar Variation Id: 1516386
• ClinVar RCV Id: RCV002040834
• dbSNP Id: rs1425480106
• MyVariant Identifiers: chr15:g.44876308A>C (hg19) ; chr15:g.44584110A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584110A>C , CM000677.2:g.44584110A>C	GRCh38
NC_000015.9:g.44876308A>C , CM000677.1:g.44876308A>C	GRCh37
NC_000015.8:g.42663600A>C	NCBI36
NG_008885.1:g.84569T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5570T>G	ENSP00000453246.2:p.Leu1857Arg
ENST00000561391.2:n.1798T>G
ENST00000682065.1:c.5426T>G	ENSP00000507025.1:p.Leu1809Arg
ENST00000682460.1:c.*1827T>G	ENSP00000508334.1:n.*1827T>G
ENST00000682495.1:c.*2062T>G	ENSP00000507166.1:n.*2062T>G
ENST00000682669.1:c.5369T>G	ENSP00000507782.1:p.Leu1790Arg
ENST00000683186.1:c.*2333T>G	ENSP00000507268.1:n.*2333T>G
ENST00000683496.1:c.5570T>G	ENSP00000506968.1:p.Leu1857Arg
ENST00000683734.1:c.5570T>G	ENSP00000508319.1:p.Leu1857Arg
ENST00000683753.1:n.4616T>G
ENST00000684038.1:c.*1990T>G	ENSP00000507141.1:n.*1990T>G
ENST00000684235.1:c.5570T>G	ENSP00000508295.1:p.Leu1857Arg
ENST00000684676.1:c.5515+55T>G	ENSP00000506948.1:n.5515+55T>G
ENST00000261866.12:c.5570T>G MANE Select	ENSP00000261866.7:p.Leu1857Arg
ENST00000261866.11:c.5570T>G	ENSP00000261866.7:p.Leu1857Arg
ENST00000427534.6:c.5570T>G	ENSP00000396110.2:p.Leu1857Arg
ENST00000535302.6:c.5570T>G	ENSP00000445278.2:p.Leu1857Arg
ENST00000558319.5:c.5570T>G	ENSP00000453599.1:p.Leu1857Arg
ENST00000559511.5:c.418T>G
ENST00000559822.1:c.287+55T>G
NM_001160227.1:c.5570T>G	NP_001153699.1:p.Leu1857Arg
NM_025137.3:c.5570T>G	NP_079413.3:p.Leu1857Arg
XM_005254695.3:c.5312T>G	XP_005254752.1:p.Leu1771Arg
XM_006720700.1:c.5426T>G	XP_006720763.1:p.Leu1809Arg
XM_017022634.1:c.5570T>G	XP_016878123.1:p.Leu1857Arg
XM_017022636.1:c.2447T>G	XP_016878125.1:p.Leu816Arg
NM_025137.4:c.5570T>G MANE Select	NP_079413.3:p.Leu1857Arg
NM_001160227.2:c.5570T>G	NP_001153699.1:p.Leu1857Arg