Canonical Allele Identifier: CA7534262

Gene: SPG11

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573652G>C , CM000677.2:g.44573652G>C	GRCh38
NC_000015.9:g.44865850G>C , CM000677.1:g.44865850G>C	GRCh37
NC_000015.8:g.42653142G>C	NCBI36
NG_008885.1:g.95027C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-2994C>G	ENSP00000453246.2:n.5867-2994C>G
ENST00000561391.2:n.2328C>G
ENST00000682065.1:c.5956C>G	ENSP00000507025.1:p.Arg1986Gly
ENST00000682460.1:c.*2357C>G	ENSP00000508334.1:n.*2357C>G
ENST00000682495.1:c.*2592C>G	ENSP00000507166.1:n.*2592C>G
ENST00000682669.1:c.5899C>G	ENSP00000507782.1:p.Arg1967Gly
ENST00000683186.1:c.*2863C>G	ENSP00000507268.1:n.*2863C>G
ENST00000683496.1:c.6006+1250C>G	ENSP00000506968.1:n.6006+1250C>G
ENST00000683734.1:c.*50C>G	ENSP00000508319.1:n.*50C>G
ENST00000683753.1:n.5146C>G
ENST00000684038.1:c.*2520C>G	ENSP00000507141.1:n.*2520C>G
ENST00000684235.1:c.6100C>G	ENSP00000508295.1:p.Arg2034Gly
ENST00000684676.1:c.*249C>G	ENSP00000506948.1:n.*249C>G
ENST00000261866.12:c.6100C>G MANE Select	ENSP00000261866.7:p.Arg2034Gly
ENST00000261866.11:c.6100C>G	ENSP00000261866.7:p.Arg2034Gly
ENST00000427534.6:c.6100C>G	ENSP00000396110.2:p.Arg2034Gly
ENST00000535302.6:c.5867-832C>G	ENSP00000445278.2:n.5867-832C>G
ENST00000558080.1:n.465C>G
ENST00000558319.5:c.6100C>G	ENSP00000453599.1:p.Arg2034Gly
ENST00000559511.5:c.715-2994C>G
ENST00000559933.1:n.169C>G
ENST00000561268.5:n.32C>G
NM_001160227.1:c.5867-832C>G	NP_001153699.1:n.5867-832C>G
NM_025137.3:c.6100C>G	NP_079413.3:p.Arg2034Gly
XM_005254695.3:c.5842C>G	XP_005254752.1:p.Arg1948Gly
XM_006720700.1:c.5956C>G	XP_006720763.1:p.Arg1986Gly
XM_017022634.1:c.6100C>G	XP_016878123.1:p.Arg2034Gly
XM_017022636.1:c.2977C>G	XP_016878125.1:p.Arg993Gly
NM_025137.4:c.6100C>G MANE Select	NP_079413.3:p.Arg2034Gly
NM_001160227.2:c.5867-832C>G	NP_001153699.1:n.5867-832C>G