Canonical Allele Identifier: CA392216014

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44569476G>T , CM000677.2:g.44569476G>T	GRCh38
NC_000015.9:g.44861674G>T , CM000677.1:g.44861674G>T	GRCh37
NC_000015.8:g.42648966G>T	NCBI36
NG_008885.1:g.99203C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.6507C>A MANE Select	NP_079413.3:p.Tyr2169Ter
ENST00000261866.12:c.6507C>A MANE Select	ENSP00000261866.7:p.Tyr2169Ter
NM_001160227.1:c.6168C>A	NP_001153699.1:p.Tyr2056Ter
NM_001160227.2:c.6168C>A	NP_001153699.1:p.Tyr2056Ter
NM_025137.3:c.6507C>A	NP_079413.3:p.Tyr2169Ter
ENST00000261866.11:c.6507C>A	ENSP00000261866.7:p.Tyr2169Ter
ENST00000427534.6:c.6507C>A	ENSP00000396110.2:p.Tyr2169Ter
ENST00000535302.6:c.6168C>A	ENSP00000445278.2:p.Tyr2056Ter
ENST00000558138.1:c.276+1049C>A	ENSP00000453314.1:n.276+1049C>A
ENST00000558138.2:c.276+1049C>A	ENSP00000453314.2:n.276+1049C>A
ENST00000559347.1:n.336C>A
ENST00000559511.5:c.878C>A
ENST00000559511.6:c.6030C>A	ENSP00000453246.2:p.Tyr2010Ter
ENST00000561268.5:n.276-1884C>A
ENST00000682065.1:c.6363C>A	ENSP00000507025.1:p.Tyr2121Ter
ENST00000682460.1:c.*2764C>A	ENSP00000508334.1:n.*2764C>A
ENST00000682495.1:c.*2999C>A	ENSP00000507166.1:n.*2999C>A
ENST00000682669.1:c.6306C>A	ENSP00000507782.1:p.Tyr2102Ter
ENST00000683186.1:c.*3270C>A	ENSP00000507268.1:n.*3270C>A
ENST00000683496.1:c.*149C>A	ENSP00000506968.1:n.*149C>A
ENST00000683734.1:c.*457C>A	ENSP00000508319.1:n.*457C>A
ENST00000683753.1:n.5553C>A
ENST00000684038.1:c.*2927C>A	ENSP00000507141.1:n.*2927C>A
ENST00000684235.1:c.6507C>A	ENSP00000508295.1:p.Tyr2169Ter
XM_005254695.3:c.6249C>A	XP_005254752.1:p.Tyr2083Ter
XM_006720700.1:c.6363C>A	XP_006720763.1:p.Tyr2121Ter
XM_017022634.1:c.6477+1049C>A	XP_016878123.1:n.6477+1049C>A
XM_017022636.1:c.3384C>A	XP_016878125.1:p.Tyr1128Ter