Canonical Allele Identifier: CA392216481

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862842T>G (hg19) ; chr15:g.44570644T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570644T>G , CM000677.2:g.44570644T>G	GRCh38
NC_000015.9:g.44862842T>G , CM000677.1:g.44862842T>G	GRCh37
NC_000015.8:g.42650134T>G	NCBI36
NG_008885.1:g.98035A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.157A>C	ENSP00000453314.2:p.Ile53Leu
ENST00000559511.6:c.5881A>C	ENSP00000453246.2:p.Ile1961Leu
ENST00000682065.1:c.6214A>C	ENSP00000507025.1:p.Ile2072Leu
ENST00000682460.1:c.*2615A>C	ENSP00000508334.1:n.*2615A>C
ENST00000682495.1:c.*2850A>C	ENSP00000507166.1:n.*2850A>C
ENST00000682669.1:c.6157A>C	ENSP00000507782.1:p.Ile2053Leu
ENST00000683186.1:c.*3121A>C	ENSP00000507268.1:n.*3121A>C
ENST00000683496.1:c.6015A>C	ENSP00000506968.1:p.Ter2005Cys
ENST00000683734.1:c.*308A>C	ENSP00000508319.1:n.*308A>C
ENST00000683753.1:n.5404A>C
ENST00000684038.1:c.*2778A>C	ENSP00000507141.1:n.*2778A>C
ENST00000684235.1:c.6358A>C	ENSP00000508295.1:p.Ile2120Leu
ENST00000261866.12:c.6358A>C MANE Select	ENSP00000261866.7:p.Ile2120Leu
ENST00000261866.11:c.6358A>C	ENSP00000261866.7:p.Ile2120Leu
ENST00000427534.6:c.6358A>C	ENSP00000396110.2:p.Ile2120Leu
ENST00000535302.6:c.6019A>C	ENSP00000445278.2:p.Ile2007Leu
ENST00000558138.1:c.157A>C	ENSP00000453314.1:p.Ile53Leu
ENST00000559347.1:n.187A>C
ENST00000559511.5:c.729A>C
ENST00000559933.1:n.427A>C
ENST00000561268.5:n.275+2039A>C
NM_001160227.1:c.6019A>C	NP_001153699.1:p.Ile2007Leu
NM_025137.3:c.6358A>C	NP_079413.3:p.Ile2120Leu
XM_005254695.3:c.6100A>C	XP_005254752.1:p.Ile2034Leu
XM_006720700.1:c.6214A>C	XP_006720763.1:p.Ile2072Leu
XM_017022634.1:c.6358A>C	XP_016878123.1:p.Ile2120Leu
XM_017022636.1:c.3235A>C	XP_016878125.1:p.Ile1079Leu
NM_025137.4:c.6358A>C MANE Select	NP_079413.3:p.Ile2120Leu
NM_001160227.2:c.6019A>C	NP_001153699.1:p.Ile2007Leu