Canonical Allele Identifier: CA392214534

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44567426C>T , CM000677.2:g.44567426C>T	GRCh38
NC_000015.9:g.44859624C>T , CM000677.1:g.44859624C>T	GRCh37
NC_000015.8:g.42646916C>T	NCBI36
NG_008885.1:g.101253G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.6752G>A MANE Select	NP_079413.3:p.Trp2251Ter
ENST00000261866.12:c.6752G>A MANE Select	ENSP00000261866.7:p.Trp2251Ter
NM_001160227.1:c.6413G>A	NP_001153699.1:p.Trp2138Ter
NM_001160227.2:c.6413G>A	NP_001153699.1:p.Trp2138Ter
NM_025137.3:c.6752G>A	NP_079413.3:p.Trp2251Ter
ENST00000261866.11:c.6752G>A	ENSP00000261866.7:p.Trp2251Ter
ENST00000427534.6:c.6752G>A	ENSP00000396110.2:p.Trp2251Ter
ENST00000535302.6:c.6413G>A	ENSP00000445278.2:p.Trp2138Ter
ENST00000558138.1:c.443G>A	ENSP00000453314.1:p.Trp148Ter
ENST00000558138.2:c.443G>A	ENSP00000453314.2:p.Trp148Ter
ENST00000559347.1:n.581G>A
ENST00000559511.5:c.1123G>A
ENST00000559511.6:c.6275G>A	ENSP00000453246.2:p.Trp2092Ter
ENST00000561268.5:n.442G>A
ENST00000682065.1:c.6608G>A	ENSP00000507025.1:p.Trp2203Ter
ENST00000682460.1:c.*3009G>A	ENSP00000508334.1:n.*3009G>A
ENST00000682495.1:c.*3244G>A	ENSP00000507166.1:n.*3244G>A
ENST00000682669.1:c.6551G>A	ENSP00000507782.1:p.Trp2184Ter
ENST00000683186.1:c.*3515G>A	ENSP00000507268.1:n.*3515G>A
ENST00000683496.1:c.*394G>A	ENSP00000506968.1:n.*394G>A
ENST00000683734.1:c.*702G>A	ENSP00000508319.1:n.*702G>A
ENST00000683753.1:n.5798G>A
ENST00000684038.1:c.*3172G>A	ENSP00000507141.1:n.*3172G>A
ENST00000684235.1:c.6752G>A	ENSP00000508295.1:p.Trp2251Ter
XM_005254695.3:c.6494G>A	XP_005254752.1:p.Trp2165Ter
XM_006720700.1:c.6608G>A	XP_006720763.1:p.Trp2203Ter
XM_017022634.1:c.6644G>A	XP_016878123.1:p.Trp2215Ter
XM_017022636.1:c.3629G>A	XP_016878125.1:p.Trp1210Ter