Canonical Allele Identifier: CA392216356

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570584G>A , CM000677.2:g.44570584G>A	GRCh38
NC_000015.9:g.44862782G>A , CM000677.1:g.44862782G>A	GRCh37
NC_000015.8:g.42650074G>A	NCBI36
NG_008885.1:g.98095C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.6418C>T MANE Select	NP_079413.3:p.Gln2140Ter
ENST00000261866.12:c.6418C>T MANE Select	ENSP00000261866.7:p.Gln2140Ter
NM_001160227.1:c.6079C>T	NP_001153699.1:p.Gln2027Ter
NM_001160227.2:c.6079C>T	NP_001153699.1:p.Gln2027Ter
NM_025137.3:c.6418C>T	NP_079413.3:p.Gln2140Ter
ENST00000261866.11:c.6418C>T	ENSP00000261866.7:p.Gln2140Ter
ENST00000427534.6:c.6418C>T	ENSP00000396110.2:p.Gln2140Ter
ENST00000535302.6:c.6079C>T	ENSP00000445278.2:p.Gln2027Ter
ENST00000558138.1:c.217C>T	ENSP00000453314.1:p.Gln73Ter
ENST00000558138.2:c.217C>T	ENSP00000453314.2:p.Gln73Ter
ENST00000559347.1:n.247C>T
ENST00000559511.5:c.789C>T
ENST00000559511.6:c.5941C>T	ENSP00000453246.2:p.Gln1981Ter
ENST00000559933.1:n.487C>T
ENST00000561268.5:n.275+2099C>T
ENST00000682065.1:c.6274C>T	ENSP00000507025.1:p.Gln2092Ter
ENST00000682460.1:c.*2675C>T	ENSP00000508334.1:n.*2675C>T
ENST00000682495.1:c.*2910C>T	ENSP00000507166.1:n.*2910C>T
ENST00000682669.1:c.6217C>T	ENSP00000507782.1:p.Gln2073Ter
ENST00000683186.1:c.*3181C>T	ENSP00000507268.1:n.*3181C>T
ENST00000683496.1:c.*60C>T	ENSP00000506968.1:n.*60C>T
ENST00000683734.1:c.*368C>T	ENSP00000508319.1:n.*368C>T
ENST00000683753.1:n.5464C>T
ENST00000684038.1:c.*2838C>T	ENSP00000507141.1:n.*2838C>T
ENST00000684235.1:c.6418C>T	ENSP00000508295.1:p.Gln2140Ter
XM_005254695.3:c.6160C>T	XP_005254752.1:p.Gln2054Ter
XM_006720700.1:c.6274C>T	XP_006720763.1:p.Gln2092Ter
XM_017022634.1:c.6418C>T	XP_016878123.1:p.Gln2140Ter
XM_017022636.1:c.3295C>T	XP_016878125.1:p.Gln1099Ter