Canonical Allele Identifier: CA7533898

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44564560C>A , CM000677.2:g.44564560C>A	GRCh38
NC_000015.9:g.44856758C>A , CM000677.1:g.44856758C>A	GRCh37
NC_000015.8:g.42644050C>A	NCBI36
NG_008885.1:g.104119G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.7138G>T MANE Select	NP_079413.3:p.Glu2380Ter
ENST00000261866.12:c.7138G>T MANE Select	ENSP00000261866.7:p.Glu2380Ter
NM_001160227.1:c.6799G>T	NP_001153699.1:p.Glu2267Ter
NM_001160227.2:c.6799G>T	NP_001153699.1:p.Glu2267Ter
NM_025137.3:c.7138G>T	NP_079413.3:p.Glu2380Ter
ENST00000261866.11:c.7138G>T	ENSP00000261866.7:p.Glu2380Ter
ENST00000427534.6:c.6755-1259G>T	ENSP00000396110.2:n.6755-1259G>T
ENST00000535302.6:c.6799G>T	ENSP00000445278.2:p.Glu2267Ter
ENST00000558138.2:c.829G>T	ENSP00000453314.2:p.Glu277Ter
ENST00000559511.5:c.1509G>T
ENST00000559511.6:c.6661G>T	ENSP00000453246.2:p.Glu2221Ter
ENST00000560299.1:n.430G>T
ENST00000682065.1:c.6994G>T	ENSP00000507025.1:p.Glu2332Ter
ENST00000682460.1:c.*3395G>T	ENSP00000508334.1:n.*3395G>T
ENST00000682495.1:c.*3630G>T	ENSP00000507166.1:n.*3630G>T
ENST00000682669.1:c.6937G>T	ENSP00000507782.1:p.Glu2313Ter
ENST00000683186.1:c.*3901G>T	ENSP00000507268.1:n.*3901G>T
ENST00000683496.1:c.*780G>T	ENSP00000506968.1:n.*780G>T
ENST00000683734.1:c.*1088G>T	ENSP00000508319.1:n.*1088G>T
ENST00000683753.1:n.6184G>T
ENST00000684038.1:c.*3558G>T	ENSP00000507141.1:n.*3558G>T
ENST00000684235.1:c.7138G>T	ENSP00000508295.1:p.Glu2380Ter
XM_005254695.3:c.6880G>T	XP_005254752.1:p.Glu2294Ter
XM_006720700.1:c.6994G>T	XP_006720763.1:p.Glu2332Ter
XM_017022634.1:c.7030G>T	XP_016878123.1:p.Glu2344Ter
XM_017022636.1:c.4015G>T	XP_016878125.1:p.Glu1339Ter