Canonical Allele Identifier: CA7533836

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44563195A>T , CM000677.2:g.44563195A>T	GRCh38
NC_000015.9:g.44855393A>T , CM000677.1:g.44855393A>T	GRCh37
NC_000015.8:g.42642685A>T	NCBI36
NG_008885.1:g.105484T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.7258T>A MANE Select	NP_079413.3:p.Phe2420Ile
ENST00000261866.12:c.7258T>A MANE Select	ENSP00000261866.7:p.Phe2420Ile
NM_001160227.1:c.6919T>A	NP_001153699.1:p.Phe2307Ile
NM_001160227.2:c.6919T>A	NP_001153699.1:p.Phe2307Ile
NM_025137.3:c.7258T>A	NP_079413.3:p.Phe2420Ile
ENST00000261866.11:c.7258T>A	ENSP00000261866.7:p.Phe2420Ile
ENST00000427534.6:c.6861T>A	ENSP00000396110.2:n.6861T>A
ENST00000535302.6:c.6919T>A	ENSP00000445278.2:p.Phe2307Ile
ENST00000558138.2:c.949T>A	ENSP00000453314.2:p.Phe317Ile
ENST00000559511.5:c.1629T>A
ENST00000559511.6:c.6781T>A	ENSP00000453246.2:p.Phe2261Ile
ENST00000682065.1:c.7114T>A	ENSP00000507025.1:p.Phe2372Ile
ENST00000682460.1:c.*3515T>A	ENSP00000508334.1:n.*3515T>A
ENST00000682495.1:c.*3750T>A	ENSP00000507166.1:n.*3750T>A
ENST00000682669.1:c.7057T>A	ENSP00000507782.1:p.Phe2353Ile
ENST00000683186.1:c.*4021T>A	ENSP00000507268.1:n.*4021T>A
ENST00000683496.1:c.*900T>A	ENSP00000506968.1:n.*900T>A
ENST00000683734.1:c.*1208T>A	ENSP00000508319.1:n.*1208T>A
ENST00000683753.1:n.6304T>A
ENST00000684038.1:c.*3678T>A	ENSP00000507141.1:n.*3678T>A
ENST00000684235.1:c.7151+1352T>A	ENSP00000508295.1:n.7151+1352T>A
XM_005254695.3:c.7000T>A	XP_005254752.1:p.Phe2334Ile
XM_006720700.1:c.7114T>A	XP_006720763.1:p.Phe2372Ile
XM_017022634.1:c.7150T>A	XP_016878123.1:p.Phe2384Ile
XM_017022636.1:c.4135T>A	XP_016878125.1:p.Phe1379Ile