Canonical Allele Identifier: CA392221705

Gene: SPG11

Linked Data

• ClinVar Variation Id: 847223
• ClinVar RCV Id: RCV001050726
• dbSNP Id: rs1483911645
• gnomAD v3: 15-44584009-C-T
• gnomAD v4: 15-44584009-C-T
• COSMIC: COSM2188990 ; COSM2188991
• MyVariant Identifiers: chr15:g.44876207C>T (hg19) ; chr15:g.44584009C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584009C>T , CM000677.2:g.44584009C>T	GRCh38
NC_000015.9:g.44876207C>T , CM000677.1:g.44876207C>T	GRCh37
NC_000015.8:g.42663499C>T	NCBI36
NG_008885.1:g.84670G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5671G>A	ENSP00000453246.2:p.Val1891Met
ENST00000561391.2:n.1899G>A
ENST00000682065.1:c.5527G>A	ENSP00000507025.1:p.Val1843Met
ENST00000682460.1:c.*1928G>A	ENSP00000508334.1:n.*1928G>A
ENST00000682495.1:c.*2163G>A	ENSP00000507166.1:n.*2163G>A
ENST00000682669.1:c.5470G>A	ENSP00000507782.1:p.Val1824Met
ENST00000683186.1:c.*2434G>A	ENSP00000507268.1:n.*2434G>A
ENST00000683496.1:c.5671G>A	ENSP00000506968.1:p.Val1891Met
ENST00000683734.1:c.5671G>A	ENSP00000508319.1:p.Val1891Met
ENST00000683753.1:n.4717G>A
ENST00000684038.1:c.*2091G>A	ENSP00000507141.1:n.*2091G>A
ENST00000684235.1:c.5671G>A	ENSP00000508295.1:p.Val1891Met
ENST00000684676.1:c.5516-74G>A	ENSP00000506948.1:n.5516-74G>A
ENST00000261866.12:c.5671G>A MANE Select	ENSP00000261866.7:p.Val1891Met
ENST00000261866.11:c.5671G>A	ENSP00000261866.7:p.Val1891Met
ENST00000427534.6:c.5671G>A	ENSP00000396110.2:p.Val1891Met
ENST00000535302.6:c.5671G>A	ENSP00000445278.2:p.Val1891Met
ENST00000558319.5:c.5671G>A	ENSP00000453599.1:p.Val1891Met
ENST00000559511.5:c.519G>A
ENST00000559822.1:c.288-74G>A
NM_001160227.1:c.5671G>A	NP_001153699.1:p.Val1891Met
NM_025137.3:c.5671G>A	NP_079413.3:p.Val1891Met
XM_005254695.3:c.5413G>A	XP_005254752.1:p.Val1805Met
XM_006720700.1:c.5527G>A	XP_006720763.1:p.Val1843Met
XM_017022634.1:c.5671G>A	XP_016878123.1:p.Val1891Met
XM_017022636.1:c.2548G>A	XP_016878125.1:p.Val850Met
NM_025137.4:c.5671G>A MANE Select	NP_079413.3:p.Val1891Met
NM_001160227.2:c.5671G>A	NP_001153699.1:p.Val1891Met