Canonical Allele Identifier: CA658798318

Gene: SPG11

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44564708A>C , CM000677.2:g.44564708A>C	GRCh38
NC_000015.9:g.44856906A>C , CM000677.1:g.44856906A>C	GRCh37
NC_000015.8:g.42644198A>C	NCBI36
NG_008885.1:g.103971T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.691-10T>G	ENSP00000453314.2:n.691-10T>G
ENST00000559511.6:c.6523-10T>G	ENSP00000453246.2:n.6523-10T>G
ENST00000682065.1:c.6856-10T>G	ENSP00000507025.1:n.6856-10T>G
ENST00000682460.1:c.*3257-10T>G	ENSP00000508334.1:n.*3257-10T>G
ENST00000682495.1:c.*3492-10T>G	ENSP00000507166.1:n.*3492-10T>G
ENST00000682669.1:c.6799-10T>G	ENSP00000507782.1:n.6799-10T>G
ENST00000683186.1:c.*3763-10T>G	ENSP00000507268.1:n.*3763-10T>G
ENST00000683496.1:c.*642-10T>G	ENSP00000506968.1:n.*642-10T>G
ENST00000683734.1:c.*950-10T>G	ENSP00000508319.1:n.*950-10T>G
ENST00000683753.1:n.6046-10T>G
ENST00000684038.1:c.*3420-10T>G	ENSP00000507141.1:n.*3420-10T>G
ENST00000684235.1:c.7000-10T>G	ENSP00000508295.1:n.7000-10T>G
ENST00000261866.12:c.7000-10T>G MANE Select	ENSP00000261866.7:n.7000-10T>G
ENST00000261866.11:c.7000-10T>G	ENSP00000261866.7:n.7000-10T>G
ENST00000427534.6:c.6755-1407T>G	ENSP00000396110.2:n.6755-1407T>G
ENST00000535302.6:c.6661-10T>G	ENSP00000445278.2:n.6661-10T>G
ENST00000558138.1:c.691-10T>G	ENSP00000453314.1:n.691-10T>G
ENST00000559511.5:c.1371-10T>G
ENST00000560299.1:n.292-10T>G
NM_001160227.1:c.6661-10T>G	NP_001153699.1:n.6661-10T>G
NM_025137.3:c.7000-10T>G	NP_079413.3:n.7000-10T>G
XM_005254695.3:c.6742-10T>G	XP_005254752.1:n.6742-10T>G
XM_006720700.1:c.6856-10T>G	XP_006720763.1:n.6856-10T>G
XM_017022634.1:c.6892-10T>G	XP_016878123.1:n.6892-10T>G
XM_017022636.1:c.3877-10T>G	XP_016878125.1:n.3877-10T>G
NM_025137.4:c.7000-10T>G MANE Select	NP_079413.3:n.7000-10T>G
NM_001160227.2:c.6661-10T>G	NP_001153699.1:n.6661-10T>G