Canonical Allele Identifier: CA392222428

Gene: SPG11

Linked Data

• ClinVar Variation Id: 1349205
• ClinVar RCV Id: RCV002051000
• dbSNP Id: rs2140946907
• gnomAD v4: 15-44584188-T-C
• MyVariant Identifiers: chr15:g.44876386T>C (hg19) ; chr15:g.44584188T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584188T>C , CM000677.2:g.44584188T>C	GRCh38
NC_000015.9:g.44876386T>C , CM000677.1:g.44876386T>C	GRCh37
NC_000015.8:g.42663678T>C	NCBI36
NG_008885.1:g.84491A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5492A>G	ENSP00000453246.2:p.Glu1831Gly
ENST00000561391.2:n.1720A>G
ENST00000682065.1:c.5348A>G	ENSP00000507025.1:p.Glu1783Gly
ENST00000682460.1:c.*1749A>G	ENSP00000508334.1:n.*1749A>G
ENST00000682495.1:c.*1984A>G	ENSP00000507166.1:n.*1984A>G
ENST00000682669.1:c.5291A>G	ENSP00000507782.1:p.Glu1764Gly
ENST00000683186.1:c.*2255A>G	ENSP00000507268.1:n.*2255A>G
ENST00000683496.1:c.5492A>G	ENSP00000506968.1:p.Glu1831Gly
ENST00000683734.1:c.5492A>G	ENSP00000508319.1:p.Glu1831Gly
ENST00000683753.1:n.4538A>G
ENST00000684038.1:c.*1912A>G	ENSP00000507141.1:n.*1912A>G
ENST00000684235.1:c.5492A>G	ENSP00000508295.1:p.Glu1831Gly
ENST00000684676.1:c.5492A>G	ENSP00000506948.1:p.Glu1831Gly
ENST00000261866.12:c.5492A>G MANE Select	ENSP00000261866.7:p.Glu1831Gly
ENST00000261866.11:c.5492A>G	ENSP00000261866.7:p.Glu1831Gly
ENST00000427534.6:c.5492A>G	ENSP00000396110.2:p.Glu1831Gly
ENST00000535302.6:c.5492A>G	ENSP00000445278.2:p.Glu1831Gly
ENST00000558319.5:c.5492A>G	ENSP00000453599.1:p.Glu1831Gly
ENST00000559511.5:c.340A>G
ENST00000559822.1:c.264A>G
NM_001160227.1:c.5492A>G	NP_001153699.1:p.Glu1831Gly
NM_025137.3:c.5492A>G	NP_079413.3:p.Glu1831Gly
XM_005254695.3:c.5234A>G	XP_005254752.1:p.Glu1745Gly
XM_006720700.1:c.5348A>G	XP_006720763.1:p.Glu1783Gly
XM_017022634.1:c.5492A>G	XP_016878123.1:p.Glu1831Gly
XM_017022636.1:c.2369A>G	XP_016878125.1:p.Glu790Gly
NM_025137.4:c.5492A>G MANE Select	NP_079413.3:p.Glu1831Gly
NM_001160227.2:c.5492A>G	NP_001153699.1:p.Glu1831Gly