Canonical Allele Identifier: CA392218340

Gene: SPG11

Linked Data

• dbSNP Id: rs1555447580
• MyVariant Identifiers: chr15:g.44865867T>G (hg19) ; chr15:g.44573669T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573669T>G , CM000677.2:g.44573669T>G	GRCh38
NC_000015.9:g.44865867T>G , CM000677.1:g.44865867T>G	GRCh37
NC_000015.8:g.42653159T>G	NCBI36
NG_008885.1:g.95010A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-3011A>C	ENSP00000453246.2:n.5867-3011A>C
ENST00000561391.2:n.2311A>C
ENST00000682065.1:c.5939A>C	ENSP00000507025.1:p.Gln1980Pro
ENST00000682460.1:c.*2340A>C	ENSP00000508334.1:n.*2340A>C
ENST00000682495.1:c.*2575A>C	ENSP00000507166.1:n.*2575A>C
ENST00000682669.1:c.5882A>C	ENSP00000507782.1:p.Gln1961Pro
ENST00000683186.1:c.*2846A>C	ENSP00000507268.1:n.*2846A>C
ENST00000683496.1:c.6006+1233A>C	ENSP00000506968.1:n.6006+1233A>C
ENST00000683734.1:c.*33A>C	ENSP00000508319.1:n.*33A>C
ENST00000683753.1:n.5129A>C
ENST00000684038.1:c.*2503A>C	ENSP00000507141.1:n.*2503A>C
ENST00000684235.1:c.6083A>C	ENSP00000508295.1:p.Gln2028Pro
ENST00000684676.1:c.*232A>C	ENSP00000506948.1:n.*232A>C
ENST00000261866.12:c.6083A>C MANE Select	ENSP00000261866.7:p.Gln2028Pro
ENST00000261866.11:c.6083A>C	ENSP00000261866.7:p.Gln2028Pro
ENST00000427534.6:c.6083A>C	ENSP00000396110.2:p.Gln2028Pro
ENST00000535302.6:c.5867-849A>C	ENSP00000445278.2:n.5867-849A>C
ENST00000558080.1:n.448A>C
ENST00000558319.5:c.6083A>C	ENSP00000453599.1:p.Gln2028Pro
ENST00000559511.5:c.715-3011A>C
ENST00000559933.1:n.152A>C
ENST00000561268.5:n.15A>C
NM_001160227.1:c.5867-849A>C	NP_001153699.1:n.5867-849A>C
NM_025137.3:c.6083A>C	NP_079413.3:p.Gln2028Pro
XM_005254695.3:c.5825A>C	XP_005254752.1:p.Gln1942Pro
XM_006720700.1:c.5939A>C	XP_006720763.1:p.Gln1980Pro
XM_017022634.1:c.6083A>C	XP_016878123.1:p.Gln2028Pro
XM_017022636.1:c.2960A>C	XP_016878125.1:p.Gln987Pro
NM_025137.4:c.6083A>C MANE Select	NP_079413.3:p.Gln2028Pro
NM_001160227.2:c.5867-849A>C	NP_001153699.1:n.5867-849A>C