Canonical Allele Identifier: CA392222845

Gene: SPG11

Linked Data

• ClinVar Variation Id: 2482965
• ClinVar RCV Id: RCV003210213
• dbSNP Id: rs2082715269
• MyVariant Identifiers: chr15:g.44876577G>C (hg19) ; chr15:g.44584379G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584379G>C , CM000677.2:g.44584379G>C	GRCh38
NC_000015.9:g.44876577G>C , CM000677.1:g.44876577G>C	GRCh37
NC_000015.8:g.42663869G>C	NCBI36
NG_008885.1:g.84300C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5301C>G	ENSP00000453246.2:p.Ser1767Arg
ENST00000561391.2:n.1529C>G
ENST00000682065.1:c.5157C>G	ENSP00000507025.1:p.Ser1719Arg
ENST00000682460.1:c.*1558C>G	ENSP00000508334.1:n.*1558C>G
ENST00000682495.1:c.*1793C>G	ENSP00000507166.1:n.*1793C>G
ENST00000682669.1:c.5100C>G	ENSP00000507782.1:p.Ser1700Arg
ENST00000683186.1:c.*2064C>G	ENSP00000507268.1:n.*2064C>G
ENST00000683496.1:c.5301C>G	ENSP00000506968.1:p.Ser1767Arg
ENST00000683734.1:c.5301C>G	ENSP00000508319.1:p.Ser1767Arg
ENST00000683753.1:n.4347C>G
ENST00000684038.1:c.*1721C>G	ENSP00000507141.1:n.*1721C>G
ENST00000684235.1:c.5301C>G	ENSP00000508295.1:p.Ser1767Arg
ENST00000684676.1:c.5301C>G	ENSP00000506948.1:p.Ser1767Arg
ENST00000261866.12:c.5301C>G MANE Select	ENSP00000261866.7:p.Ser1767Arg
ENST00000261866.11:c.5301C>G	ENSP00000261866.7:p.Ser1767Arg
ENST00000427534.6:c.5301C>G	ENSP00000396110.2:p.Ser1767Arg
ENST00000535302.6:c.5301C>G	ENSP00000445278.2:p.Ser1767Arg
ENST00000558319.5:c.5301C>G	ENSP00000453599.1:p.Ser1767Arg
ENST00000558790.5:n.738C>G
ENST00000559511.5:c.149C>G
ENST00000559822.1:c.73C>G
NM_001160227.1:c.5301C>G	NP_001153699.1:p.Ser1767Arg
NM_025137.3:c.5301C>G	NP_079413.3:p.Ser1767Arg
XM_005254695.3:c.5043C>G	XP_005254752.1:p.Ser1681Arg
XM_006720700.1:c.5157C>G	XP_006720763.1:p.Ser1719Arg
XM_017022634.1:c.5301C>G	XP_016878123.1:p.Ser1767Arg
XM_017022636.1:c.2178C>G	XP_016878125.1:p.Ser726Arg
XR_931917.2:n.5355C>G
NM_025137.4:c.5301C>G MANE Select	NP_079413.3:p.Ser1767Arg
NM_001160227.2:c.5301C>G	NP_001153699.1:p.Ser1767Arg