Canonical Allele Identifier: CA392227029

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44595461T>C , CM000677.2:g.44595461T>C	GRCh38
NC_000015.9:g.44887659T>C , CM000677.1:g.44887659T>C	GRCh37
NC_000015.8:g.42674951T>C	NCBI36
NG_008885.1:g.73218A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.4435-2A>G MANE Select	NP_079413.3:n.4435-2A>G
ENST00000261866.12:c.4435-2A>G MANE Select	ENSP00000261866.7:n.4435-2A>G
NM_001160227.1:c.4435-2A>G	NP_001153699.1:n.4435-2A>G
NM_001160227.2:c.4435-2A>G	NP_001153699.1:n.4435-2A>G
NM_025137.3:c.4435-2A>G	NP_079413.3:n.4435-2A>G
ENST00000261866.11:c.4435-2A>G	ENSP00000261866.7:n.4435-2A>G
ENST00000427534.6:c.4435-2A>G	ENSP00000396110.2:n.4435-2A>G
ENST00000535302.6:c.4435-2A>G	ENSP00000445278.2:n.4435-2A>G
ENST00000558155.1:c.287+599A>G	ENSP00000453238.1:n.287+599A>G
ENST00000558319.5:c.4435-2A>G	ENSP00000453599.1:n.4435-2A>G
ENST00000559511.6:c.4435-2A>G	ENSP00000453246.2:n.4435-2A>G
ENST00000561391.2:n.663-2A>G
ENST00000682065.1:c.4435-2A>G	ENSP00000507025.1:n.4435-2A>G
ENST00000682460.1:c.*855-2A>G	ENSP00000508334.1:n.*855-2A>G
ENST00000682495.1:c.*927-2A>G	ENSP00000507166.1:n.*927-2A>G
ENST00000682669.1:c.4234-2A>G	ENSP00000507782.1:n.4234-2A>G
ENST00000682788.1:c.4435-2A>G	ENSP00000508089.1:n.4435-2A>G
ENST00000683121.1:c.4457+599A>G	ENSP00000507557.1:n.4457+599A>G
ENST00000683186.1:c.*1198-2A>G	ENSP00000507268.1:n.*1198-2A>G
ENST00000683496.1:c.4435-2A>G	ENSP00000506968.1:n.4435-2A>G
ENST00000683734.1:c.4435-2A>G	ENSP00000508319.1:n.4435-2A>G
ENST00000683753.1:n.3481-2A>G
ENST00000684038.1:c.*855-2A>G	ENSP00000507141.1:n.*855-2A>G
ENST00000684235.1:c.4435-2A>G	ENSP00000508295.1:n.4435-2A>G
ENST00000684676.1:c.4435-2A>G	ENSP00000506948.1:n.4435-2A>G
XM_005254695.3:c.4177-2A>G	XP_005254752.1:n.4177-2A>G
XM_006720700.1:c.4435-2A>G	XP_006720763.1:n.4435-2A>G
XM_006720701.2:c.4435-2A>G	XP_006720764.1:n.4435-2A>G
XM_006720701.3:c.4435-2A>G	XP_006720764.1:n.4435-2A>G
XM_017022634.1:c.4435-2A>G	XP_016878123.1:n.4435-2A>G
XM_017022635.2:c.4435-2A>G	XP_016878124.1:n.4435-2A>G
XM_017022636.1:c.1312-2A>G	XP_016878125.1:n.1312-2A>G
XR_931917.1:n.4489-2A>G
XR_931917.2:n.4489-2A>G