Canonical Allele Identifier: CA7534333

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44583813C>T , CM000677.2:g.44583813C>T	GRCh38
NC_000015.9:g.44876011C>T , CM000677.1:g.44876011C>T	GRCh37
NC_000015.8:g.42663303C>T	NCBI36
NG_008885.1:g.84866G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.5866+1G>A MANE Select	NP_079413.3:n.5866+1G>A
ENST00000261866.12:c.5866+1G>A MANE Select	ENSP00000261866.7:n.5866+1G>A
NM_001160227.1:c.5866+1G>A	NP_001153699.1:n.5866+1G>A
NM_001160227.2:c.5866+1G>A	NP_001153699.1:n.5866+1G>A
NM_025137.3:c.5866+1G>A	NP_079413.3:n.5866+1G>A
ENST00000261866.11:c.5866+1G>A	ENSP00000261866.7:n.5866+1G>A
ENST00000427534.6:c.5866+1G>A	ENSP00000396110.2:n.5866+1G>A
ENST00000535302.6:c.5866+1G>A	ENSP00000445278.2:n.5866+1G>A
ENST00000558319.5:c.5866+1G>A	ENSP00000453599.1:n.5866+1G>A
ENST00000559511.5:c.714+1G>A
ENST00000559511.6:c.5866+1G>A	ENSP00000453246.2:n.5866+1G>A
ENST00000559822.1:c.409+1G>A
ENST00000561391.2:n.2094+1G>A
ENST00000682065.1:c.5722+1G>A	ENSP00000507025.1:n.5722+1G>A
ENST00000682460.1:c.*2123+1G>A	ENSP00000508334.1:n.*2123+1G>A
ENST00000682495.1:c.*2358+1G>A	ENSP00000507166.1:n.*2358+1G>A
ENST00000682669.1:c.5665+1G>A	ENSP00000507782.1:n.5665+1G>A
ENST00000683186.1:c.*2629+1G>A	ENSP00000507268.1:n.*2629+1G>A
ENST00000683496.1:c.5866+1G>A	ENSP00000506968.1:n.5866+1G>A
ENST00000683734.1:c.5866+1G>A	ENSP00000508319.1:n.5866+1G>A
ENST00000683753.1:n.4912+1G>A
ENST00000684038.1:c.*2286+1G>A	ENSP00000507141.1:n.*2286+1G>A
ENST00000684235.1:c.5866+1G>A	ENSP00000508295.1:n.5866+1G>A
ENST00000684676.1:c.*15+1G>A	ENSP00000506948.1:n.*15+1G>A
XM_005254695.3:c.5608+1G>A	XP_005254752.1:n.5608+1G>A
XM_006720700.1:c.5722+1G>A	XP_006720763.1:n.5722+1G>A
XM_017022634.1:c.5866+1G>A	XP_016878123.1:n.5866+1G>A
XM_017022636.1:c.2743+1G>A	XP_016878125.1:n.2743+1G>A