Canonical Allele Identifier: CA270057308

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44564536T>G , CM000677.2:g.44564536T>G	GRCh38
NC_000015.9:g.44856734T>G , CM000677.1:g.44856734T>G	GRCh37
NC_000015.8:g.42644026T>G	NCBI36
NG_008885.1:g.104143A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.7151+11A>C MANE Select	NP_079413.3:n.7151+11A>C
ENST00000261866.12:c.7151+11A>C MANE Select	ENSP00000261866.7:n.7151+11A>C
NM_001160227.1:c.6812+11A>C	NP_001153699.1:n.6812+11A>C
NM_001160227.2:c.6812+11A>C	NP_001153699.1:n.6812+11A>C
NM_025137.3:c.7151+11A>C	NP_079413.3:n.7151+11A>C
ENST00000261866.11:c.7151+11A>C	ENSP00000261866.7:n.7151+11A>C
ENST00000427534.6:c.6755-1235A>C	ENSP00000396110.2:n.6755-1235A>C
ENST00000535302.6:c.6812+11A>C	ENSP00000445278.2:n.6812+11A>C
ENST00000558138.2:c.842+11A>C	ENSP00000453314.2:n.842+11A>C
ENST00000559511.5:c.1522+11A>C
ENST00000559511.6:c.6674+11A>C	ENSP00000453246.2:n.6674+11A>C
ENST00000682065.1:c.7007+11A>C	ENSP00000507025.1:n.7007+11A>C
ENST00000682460.1:c.*3408+11A>C	ENSP00000508334.1:n.*3408+11A>C
ENST00000682495.1:c.*3643+11A>C	ENSP00000507166.1:n.*3643+11A>C
ENST00000682669.1:c.6950+11A>C	ENSP00000507782.1:n.6950+11A>C
ENST00000683186.1:c.*3914+11A>C	ENSP00000507268.1:n.*3914+11A>C
ENST00000683496.1:c.*793+11A>C	ENSP00000506968.1:n.*793+11A>C
ENST00000683734.1:c.*1101+11A>C	ENSP00000508319.1:n.*1101+11A>C
ENST00000683753.1:n.6197+11A>C
ENST00000684038.1:c.*3571+11A>C	ENSP00000507141.1:n.*3571+11A>C
ENST00000684235.1:c.7151+11A>C	ENSP00000508295.1:n.7151+11A>C
XM_005254695.3:c.6893+11A>C	XP_005254752.1:n.6893+11A>C
XM_006720700.1:c.7007+11A>C	XP_006720763.1:n.7007+11A>C
XM_017022634.1:c.7043+11A>C	XP_016878123.1:n.7043+11A>C
XM_017022636.1:c.4028+11A>C	XP_016878125.1:n.4028+11A>C