Canonical Allele Identifier: CA7534267

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573690C>T , CM000677.2:g.44573690C>T	GRCh38
NC_000015.9:g.44865888C>T , CM000677.1:g.44865888C>T	GRCh37
NC_000015.8:g.42653180C>T	NCBI36
NG_008885.1:g.94989G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.6062G>A MANE Select	NP_079413.3:p.Arg2021Gln
ENST00000261866.12:c.6062G>A MANE Select	ENSP00000261866.7:p.Arg2021Gln
NM_001160227.1:c.5867-870G>A	NP_001153699.1:n.5867-870G>A
NM_001160227.2:c.5867-870G>A	NP_001153699.1:n.5867-870G>A
NM_025137.3:c.6062G>A	NP_079413.3:p.Arg2021Gln
ENST00000261866.11:c.6062G>A	ENSP00000261866.7:p.Arg2021Gln
ENST00000427534.6:c.6062G>A	ENSP00000396110.2:p.Arg2021Gln
ENST00000535302.6:c.5867-870G>A	ENSP00000445278.2:n.5867-870G>A
ENST00000558080.1:n.427G>A
ENST00000558319.5:c.6062G>A	ENSP00000453599.1:p.Arg2021Gln
ENST00000559511.5:c.715-3032G>A
ENST00000559511.6:c.5867-3032G>A	ENSP00000453246.2:n.5867-3032G>A
ENST00000559933.1:n.131G>A
ENST00000561391.2:n.2290G>A
ENST00000682065.1:c.5918G>A	ENSP00000507025.1:p.Arg1973Gln
ENST00000682460.1:c.*2319G>A	ENSP00000508334.1:n.*2319G>A
ENST00000682495.1:c.*2554G>A	ENSP00000507166.1:n.*2554G>A
ENST00000682669.1:c.5861G>A	ENSP00000507782.1:p.Arg1954Gln
ENST00000683186.1:c.*2825G>A	ENSP00000507268.1:n.*2825G>A
ENST00000683496.1:c.6006+1212G>A	ENSP00000506968.1:n.6006+1212G>A
ENST00000683734.1:c.*12G>A	ENSP00000508319.1:n.*12G>A
ENST00000683753.1:n.5108G>A
ENST00000684038.1:c.*2482G>A	ENSP00000507141.1:n.*2482G>A
ENST00000684235.1:c.6062G>A	ENSP00000508295.1:p.Arg2021Gln
ENST00000684676.1:c.*211G>A	ENSP00000506948.1:n.*211G>A
XM_005254695.3:c.5804G>A	XP_005254752.1:p.Arg1935Gln
XM_006720700.1:c.5918G>A	XP_006720763.1:p.Arg1973Gln
XM_017022634.1:c.6062G>A	XP_016878123.1:p.Arg2021Gln
XM_017022636.1:c.2939G>A	XP_016878125.1:p.Arg980Gln