Canonical Allele Identifier: CA1139663880

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44563307T>C , CM000677.2:g.44563307T>C	GRCh38
NC_000015.9:g.44855505T>C , CM000677.1:g.44855505T>C	GRCh37
NC_000015.8:g.42642797T>C	NCBI36
NG_008885.1:g.105372A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.7152-6A>G MANE Select	NP_079413.3:n.7152-6A>G
ENST00000261866.12:c.7152-6A>G MANE Select	ENSP00000261866.7:n.7152-6A>G
NM_001160227.1:c.6813-6A>G	NP_001153699.1:n.6813-6A>G
NM_001160227.2:c.6813-6A>G	NP_001153699.1:n.6813-6A>G
NM_025137.3:c.7152-6A>G	NP_079413.3:n.7152-6A>G
ENST00000261866.11:c.7152-6A>G	ENSP00000261866.7:n.7152-6A>G
ENST00000427534.6:c.6755-6A>G	ENSP00000396110.2:n.6755-6A>G
ENST00000535302.6:c.6813-6A>G	ENSP00000445278.2:n.6813-6A>G
ENST00000558138.2:c.843-6A>G	ENSP00000453314.2:n.843-6A>G
ENST00000559511.5:c.1523-6A>G
ENST00000559511.6:c.6675-6A>G	ENSP00000453246.2:n.6675-6A>G
ENST00000682065.1:c.7008-6A>G	ENSP00000507025.1:n.7008-6A>G
ENST00000682460.1:c.*3409-6A>G	ENSP00000508334.1:n.*3409-6A>G
ENST00000682495.1:c.*3644-6A>G	ENSP00000507166.1:n.*3644-6A>G
ENST00000682669.1:c.6951-6A>G	ENSP00000507782.1:n.6951-6A>G
ENST00000683186.1:c.*3915-6A>G	ENSP00000507268.1:n.*3915-6A>G
ENST00000683496.1:c.*794-6A>G	ENSP00000506968.1:n.*794-6A>G
ENST00000683734.1:c.*1102-6A>G	ENSP00000508319.1:n.*1102-6A>G
ENST00000683753.1:n.6198-6A>G
ENST00000684038.1:c.*3572-6A>G	ENSP00000507141.1:n.*3572-6A>G
ENST00000684235.1:c.7151+1240A>G	ENSP00000508295.1:n.7151+1240A>G
XM_005254695.3:c.6894-6A>G	XP_005254752.1:n.6894-6A>G
XM_006720700.1:c.7008-6A>G	XP_006720763.1:n.7008-6A>G
XM_017022634.1:c.7044-6A>G	XP_016878123.1:n.7044-6A>G
XM_017022636.1:c.4029-6A>G	XP_016878125.1:n.4029-6A>G