Canonical Allele Identifier: CA7534240

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573546C>T , CM000677.2:g.44573546C>T	GRCh38
NC_000015.9:g.44865744C>T , CM000677.1:g.44865744C>T	GRCh37
NC_000015.8:g.42653036C>T	NCBI36
NG_008885.1:g.95133G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.6205+1G>A MANE Select	NP_079413.3:n.6205+1G>A
ENST00000261866.12:c.6205+1G>A MANE Select	ENSP00000261866.7:n.6205+1G>A
NM_001160227.1:c.5867-726G>A	NP_001153699.1:n.5867-726G>A
NM_001160227.2:c.5867-726G>A	NP_001153699.1:n.5867-726G>A
NM_025137.3:c.6205+1G>A	NP_079413.3:n.6205+1G>A
ENST00000261866.11:c.6205+1G>A	ENSP00000261866.7:n.6205+1G>A
ENST00000427534.6:c.6205+1G>A	ENSP00000396110.2:n.6205+1G>A
ENST00000535302.6:c.5867-726G>A	ENSP00000445278.2:n.5867-726G>A
ENST00000558080.1:n.571G>A
ENST00000558319.5:c.6206G>A	ENSP00000453599.1:p.Gly2069Asp
ENST00000559511.5:c.715-2888G>A
ENST00000559511.6:c.5867-2888G>A	ENSP00000453246.2:n.5867-2888G>A
ENST00000559933.1:n.274+1G>A
ENST00000561268.5:n.137+1G>A
ENST00000561391.2:n.2434G>A
ENST00000682065.1:c.6061+1G>A	ENSP00000507025.1:n.6061+1G>A
ENST00000682460.1:c.*2462+1G>A	ENSP00000508334.1:n.*2462+1G>A
ENST00000682495.1:c.*2697+1G>A	ENSP00000507166.1:n.*2697+1G>A
ENST00000682669.1:c.6004+1G>A	ENSP00000507782.1:n.6004+1G>A
ENST00000683186.1:c.*2968+1G>A	ENSP00000507268.1:n.*2968+1G>A
ENST00000683496.1:c.6006+1356G>A	ENSP00000506968.1:n.6006+1356G>A
ENST00000683734.1:c.*155+1G>A	ENSP00000508319.1:n.*155+1G>A
ENST00000683753.1:n.5251+1G>A
ENST00000684038.1:c.*2625+1G>A	ENSP00000507141.1:n.*2625+1G>A
ENST00000684235.1:c.6205+1G>A	ENSP00000508295.1:n.6205+1G>A
ENST00000684676.1:c.*355G>A	ENSP00000506948.1:n.*355G>A
XM_005254695.3:c.5947+1G>A	XP_005254752.1:n.5947+1G>A
XM_006720700.1:c.6061+1G>A	XP_006720763.1:n.6061+1G>A
XM_017022634.1:c.6205+1G>A	XP_016878123.1:n.6205+1G>A
XM_017022636.1:c.3082+1G>A	XP_016878125.1:n.3082+1G>A