Canonical Allele Identifier: CA392216435

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862822G>T (hg19) ; chr15:g.44570624G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570624G>T , CM000677.2:g.44570624G>T	GRCh38
NC_000015.9:g.44862822G>T , CM000677.1:g.44862822G>T	GRCh37
NC_000015.8:g.42650114G>T	NCBI36
NG_008885.1:g.98055C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.177C>A	ENSP00000453314.2:p.Phe59Leu
ENST00000559511.6:c.5901C>A	ENSP00000453246.2:p.Phe1967Leu
ENST00000682065.1:c.6234C>A	ENSP00000507025.1:p.Phe2078Leu
ENST00000682460.1:c.*2635C>A	ENSP00000508334.1:n.*2635C>A
ENST00000682495.1:c.*2870C>A	ENSP00000507166.1:n.*2870C>A
ENST00000682669.1:c.6177C>A	ENSP00000507782.1:p.Phe2059Leu
ENST00000683186.1:c.*3141C>A	ENSP00000507268.1:n.*3141C>A
ENST00000683496.1:c.*20C>A	ENSP00000506968.1:n.*20C>A
ENST00000683734.1:c.*328C>A	ENSP00000508319.1:n.*328C>A
ENST00000683753.1:n.5424C>A
ENST00000684038.1:c.*2798C>A	ENSP00000507141.1:n.*2798C>A
ENST00000684235.1:c.6378C>A	ENSP00000508295.1:p.Phe2126Leu
ENST00000261866.12:c.6378C>A MANE Select	ENSP00000261866.7:p.Phe2126Leu
ENST00000261866.11:c.6378C>A	ENSP00000261866.7:p.Phe2126Leu
ENST00000427534.6:c.6378C>A	ENSP00000396110.2:p.Phe2126Leu
ENST00000535302.6:c.6039C>A	ENSP00000445278.2:p.Phe2013Leu
ENST00000558138.1:c.177C>A	ENSP00000453314.1:p.Phe59Leu
ENST00000559347.1:n.207C>A
ENST00000559511.5:c.749C>A
ENST00000559933.1:n.447C>A
ENST00000561268.5:n.275+2059C>A
NM_001160227.1:c.6039C>A	NP_001153699.1:p.Phe2013Leu
NM_025137.3:c.6378C>A	NP_079413.3:p.Phe2126Leu
XM_005254695.3:c.6120C>A	XP_005254752.1:p.Phe2040Leu
XM_006720700.1:c.6234C>A	XP_006720763.1:p.Phe2078Leu
XM_017022634.1:c.6378C>A	XP_016878123.1:p.Phe2126Leu
XM_017022636.1:c.3255C>A	XP_016878125.1:p.Phe1085Leu
NM_025137.4:c.6378C>A MANE Select	NP_079413.3:p.Phe2126Leu
NM_001160227.2:c.6039C>A	NP_001153699.1:p.Phe2013Leu