Canonical Allele Identifier: CA392216438

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862823A>T (hg19) ; chr15:g.44570625A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570625A>T , CM000677.2:g.44570625A>T	GRCh38
NC_000015.9:g.44862823A>T , CM000677.1:g.44862823A>T	GRCh37
NC_000015.8:g.42650115A>T	NCBI36
NG_008885.1:g.98054T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.176T>A	ENSP00000453314.2:p.Phe59Tyr
ENST00000559511.6:c.5900T>A	ENSP00000453246.2:p.Phe1967Tyr
ENST00000682065.1:c.6233T>A	ENSP00000507025.1:p.Phe2078Tyr
ENST00000682460.1:c.*2634T>A	ENSP00000508334.1:n.*2634T>A
ENST00000682495.1:c.*2869T>A	ENSP00000507166.1:n.*2869T>A
ENST00000682669.1:c.6176T>A	ENSP00000507782.1:p.Phe2059Tyr
ENST00000683186.1:c.*3140T>A	ENSP00000507268.1:n.*3140T>A
ENST00000683496.1:c.*19T>A	ENSP00000506968.1:n.*19T>A
ENST00000683734.1:c.*327T>A	ENSP00000508319.1:n.*327T>A
ENST00000683753.1:n.5423T>A
ENST00000684038.1:c.*2797T>A	ENSP00000507141.1:n.*2797T>A
ENST00000684235.1:c.6377T>A	ENSP00000508295.1:p.Phe2126Tyr
ENST00000261866.12:c.6377T>A MANE Select	ENSP00000261866.7:p.Phe2126Tyr
ENST00000261866.11:c.6377T>A	ENSP00000261866.7:p.Phe2126Tyr
ENST00000427534.6:c.6377T>A	ENSP00000396110.2:p.Phe2126Tyr
ENST00000535302.6:c.6038T>A	ENSP00000445278.2:p.Phe2013Tyr
ENST00000558138.1:c.176T>A	ENSP00000453314.1:p.Phe59Tyr
ENST00000559347.1:n.206T>A
ENST00000559511.5:c.748T>A
ENST00000559933.1:n.446T>A
ENST00000561268.5:n.275+2058T>A
NM_001160227.1:c.6038T>A	NP_001153699.1:p.Phe2013Tyr
NM_025137.3:c.6377T>A	NP_079413.3:p.Phe2126Tyr
XM_005254695.3:c.6119T>A	XP_005254752.1:p.Phe2040Tyr
XM_006720700.1:c.6233T>A	XP_006720763.1:p.Phe2078Tyr
XM_017022634.1:c.6377T>A	XP_016878123.1:p.Phe2126Tyr
XM_017022636.1:c.3254T>A	XP_016878125.1:p.Phe1085Tyr
NM_025137.4:c.6377T>A MANE Select	NP_079413.3:p.Phe2126Tyr
NM_001160227.2:c.6038T>A	NP_001153699.1:p.Phe2013Tyr