Canonical Allele Identifier: CA10647000

Gene: SPG11

Linked Data

• ClinVar Variation Id: 316073
• ClinVar RCV Id: RCV000303411 ; RCV002374536
• dbSNP Id: rs886051176
• MyVariant Identifiers: chr15:g.44855448T>C (hg19) ; chr15:g.44563250T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44563250T>C , CM000677.2:g.44563250T>C	GRCh38
NC_000015.9:g.44855448T>C , CM000677.1:g.44855448T>C	GRCh37
NC_000015.8:g.42642740T>C	NCBI36
NG_008885.1:g.105429A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.894A>G	ENSP00000453314.2:p.Leu298=
ENST00000559511.6:c.6726A>G	ENSP00000453246.2:p.Leu2242=
ENST00000682065.1:c.7059A>G	ENSP00000507025.1:p.Leu2353=
ENST00000682460.1:c.*3460A>G	ENSP00000508334.1:n.*3460A>G
ENST00000682495.1:c.*3695A>G	ENSP00000507166.1:n.*3695A>G
ENST00000682669.1:c.7002A>G	ENSP00000507782.1:p.Leu2334=
ENST00000683186.1:c.*3966A>G	ENSP00000507268.1:n.*3966A>G
ENST00000683496.1:c.*845A>G	ENSP00000506968.1:n.*845A>G
ENST00000683734.1:c.*1153A>G	ENSP00000508319.1:n.*1153A>G
ENST00000683753.1:n.6249A>G
ENST00000684038.1:c.*3623A>G	ENSP00000507141.1:n.*3623A>G
ENST00000684235.1:c.7151+1297A>G	ENSP00000508295.1:n.7151+1297A>G
ENST00000261866.12:c.7203A>G MANE Select	ENSP00000261866.7:p.Leu2401=
ENST00000261866.11:c.7203A>G	ENSP00000261866.7:p.Leu2401=
ENST00000427534.6:c.6806A>G	ENSP00000396110.2:n.6806A>G
ENST00000535302.6:c.6864A>G	ENSP00000445278.2:p.Leu2288=
ENST00000559511.5:c.1574A>G
NM_001160227.1:c.6864A>G	NP_001153699.1:p.Leu2288=
NM_025137.3:c.7203A>G	NP_079413.3:p.Leu2401=
XM_005254695.3:c.6945A>G	XP_005254752.1:p.Leu2315=
XM_006720700.1:c.7059A>G	XP_006720763.1:p.Leu2353=
XM_017022634.1:c.7095A>G	XP_016878123.1:p.Leu2365=
XM_017022636.1:c.4080A>G	XP_016878125.1:p.Leu1360=
NM_025137.4:c.7203A>G MANE Select	NP_079413.3:p.Leu2401=
NM_001160227.2:c.6864A>G	NP_001153699.1:p.Leu2288=