Canonical Allele Identifier: CA392213976

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44566306C>T , CM000677.2:g.44566306C>T	GRCh38
NC_000015.9:g.44858504C>T , CM000677.1:g.44858504C>T	GRCh37
NC_000015.8:g.42645796C>T	NCBI36
NG_008885.1:g.102373G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.6755-1G>A MANE Select	NP_079413.3:n.6755-1G>A
ENST00000261866.12:c.6755-1G>A MANE Select	ENSP00000261866.7:n.6755-1G>A
NM_001160227.1:c.6416-1G>A	NP_001153699.1:n.6416-1G>A
NM_001160227.2:c.6416-1G>A	NP_001153699.1:n.6416-1G>A
NM_025137.3:c.6755-1G>A	NP_079413.3:n.6755-1G>A
ENST00000261866.11:c.6755-1G>A	ENSP00000261866.7:n.6755-1G>A
ENST00000427534.6:c.6754+1118G>A	ENSP00000396110.2:n.6754+1118G>A
ENST00000535302.6:c.6416-1G>A	ENSP00000445278.2:n.6416-1G>A
ENST00000558138.1:c.446-1G>A	ENSP00000453314.1:n.446-1G>A
ENST00000558138.2:c.446-1G>A	ENSP00000453314.2:n.446-1G>A
ENST00000559347.1:n.584-1G>A
ENST00000559511.5:c.1126-1G>A
ENST00000559511.6:c.6278-1G>A	ENSP00000453246.2:n.6278-1G>A
ENST00000682065.1:c.6611-1G>A	ENSP00000507025.1:n.6611-1G>A
ENST00000682460.1:c.*3012-1G>A	ENSP00000508334.1:n.*3012-1G>A
ENST00000682495.1:c.*3247-1G>A	ENSP00000507166.1:n.*3247-1G>A
ENST00000682669.1:c.6554-1G>A	ENSP00000507782.1:n.6554-1G>A
ENST00000683186.1:c.*3518-1G>A	ENSP00000507268.1:n.*3518-1G>A
ENST00000683496.1:c.*397-1G>A	ENSP00000506968.1:n.*397-1G>A
ENST00000683734.1:c.*705-1G>A	ENSP00000508319.1:n.*705-1G>A
ENST00000683753.1:n.5801-1G>A
ENST00000684038.1:c.*3175-1G>A	ENSP00000507141.1:n.*3175-1G>A
ENST00000684235.1:c.6755-1G>A	ENSP00000508295.1:n.6755-1G>A
XM_005254695.3:c.6497-1G>A	XP_005254752.1:n.6497-1G>A
XM_006720700.1:c.6611-1G>A	XP_006720763.1:n.6611-1G>A
XM_017022634.1:c.6647-1G>A	XP_016878123.1:n.6647-1G>A
XM_017022636.1:c.3632-1G>A	XP_016878125.1:n.3632-1G>A