Canonical Allele Identifier: CA7533839

Gene: SPG11

Linked Data

• ClinVar Variation Id: 241599
• ClinVar RCV Id: RCV000231950 ; RCV000514388 ; RCV000602319 ; RCV001260218 ; RCV001848014
• dbSNP Id: rs76116949
• ExAC: 15:44855395 T / C
• gnomAD v2: 15-44855395-T-C
• gnomAD v3: 15-44563197-T-C
• gnomAD v4: 15-44563197-T-C
• MyVariant Identifiers: chr15:g.44855395T>C (hg19) ; chr15:g.44563197T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44563197T>C , CM000677.2:g.44563197T>C	GRCh38
NC_000015.9:g.44855395T>C , CM000677.1:g.44855395T>C	GRCh37
NC_000015.8:g.42642687T>C	NCBI36
NG_008885.1:g.105482A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.947A>G	ENSP00000453314.2:p.Lys316Arg
ENST00000559511.6:c.6779A>G	ENSP00000453246.2:p.Lys2260Arg
ENST00000682065.1:c.7112A>G	ENSP00000507025.1:p.Lys2371Arg
ENST00000682460.1:c.*3513A>G	ENSP00000508334.1:n.*3513A>G
ENST00000682495.1:c.*3748A>G	ENSP00000507166.1:n.*3748A>G
ENST00000682669.1:c.7055A>G	ENSP00000507782.1:p.Lys2352Arg
ENST00000683186.1:c.*4019A>G	ENSP00000507268.1:n.*4019A>G
ENST00000683496.1:c.*898A>G	ENSP00000506968.1:n.*898A>G
ENST00000683734.1:c.*1206A>G	ENSP00000508319.1:n.*1206A>G
ENST00000683753.1:n.6302A>G
ENST00000684038.1:c.*3676A>G	ENSP00000507141.1:n.*3676A>G
ENST00000684235.1:c.7151+1350A>G	ENSP00000508295.1:n.7151+1350A>G
ENST00000261866.12:c.7256A>G MANE Select	ENSP00000261866.7:p.Lys2419Arg
ENST00000261866.11:c.7256A>G	ENSP00000261866.7:p.Lys2419Arg
ENST00000427534.6:c.6859A>G	ENSP00000396110.2:n.6859A>G
ENST00000535302.6:c.6917A>G	ENSP00000445278.2:p.Lys2306Arg
ENST00000559511.5:c.1627A>G
NM_001160227.1:c.6917A>G	NP_001153699.1:p.Lys2306Arg
NM_025137.3:c.7256A>G	NP_079413.3:p.Lys2419Arg
XM_005254695.3:c.6998A>G	XP_005254752.1:p.Lys2333Arg
XM_006720700.1:c.7112A>G	XP_006720763.1:p.Lys2371Arg
XM_017022634.1:c.7148A>G	XP_016878123.1:p.Lys2383Arg
XM_017022636.1:c.4133A>G	XP_016878125.1:p.Lys1378Arg
NM_025137.4:c.7256A>G MANE Select	NP_079413.3:p.Lys2419Arg
NM_001160227.2:c.6917A>G	NP_001153699.1:p.Lys2306Arg