Canonical Allele Identifier: CA392216480

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862841A>T (hg19) ; chr15:g.44570643A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570643A>T , CM000677.2:g.44570643A>T	GRCh38
NC_000015.9:g.44862841A>T , CM000677.1:g.44862841A>T	GRCh37
NC_000015.8:g.42650133A>T	NCBI36
NG_008885.1:g.98036T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.158T>A	ENSP00000453314.2:p.Ile53Asn
ENST00000559511.6:c.5882T>A	ENSP00000453246.2:p.Ile1961Asn
ENST00000682065.1:c.6215T>A	ENSP00000507025.1:p.Ile2072Asn
ENST00000682460.1:c.*2616T>A	ENSP00000508334.1:n.*2616T>A
ENST00000682495.1:c.*2851T>A	ENSP00000507166.1:n.*2851T>A
ENST00000682669.1:c.6158T>A	ENSP00000507782.1:p.Ile2053Asn
ENST00000683186.1:c.*3122T>A	ENSP00000507268.1:n.*3122T>A
ENST00000683496.1:c.*1T>A	ENSP00000506968.1:n.*1T>A
ENST00000683734.1:c.*309T>A	ENSP00000508319.1:n.*309T>A
ENST00000683753.1:n.5405T>A
ENST00000684038.1:c.*2779T>A	ENSP00000507141.1:n.*2779T>A
ENST00000684235.1:c.6359T>A	ENSP00000508295.1:p.Ile2120Asn
ENST00000261866.12:c.6359T>A MANE Select	ENSP00000261866.7:p.Ile2120Asn
ENST00000261866.11:c.6359T>A	ENSP00000261866.7:p.Ile2120Asn
ENST00000427534.6:c.6359T>A	ENSP00000396110.2:p.Ile2120Asn
ENST00000535302.6:c.6020T>A	ENSP00000445278.2:p.Ile2007Asn
ENST00000558138.1:c.158T>A	ENSP00000453314.1:p.Ile53Asn
ENST00000559347.1:n.188T>A
ENST00000559511.5:c.730T>A
ENST00000559933.1:n.428T>A
ENST00000561268.5:n.275+2040T>A
NM_001160227.1:c.6020T>A	NP_001153699.1:p.Ile2007Asn
NM_025137.3:c.6359T>A	NP_079413.3:p.Ile2120Asn
XM_005254695.3:c.6101T>A	XP_005254752.1:p.Ile2034Asn
XM_006720700.1:c.6215T>A	XP_006720763.1:p.Ile2072Asn
XM_017022634.1:c.6359T>A	XP_016878123.1:p.Ile2120Asn
XM_017022636.1:c.3236T>A	XP_016878125.1:p.Ile1079Asn
NM_025137.4:c.6359T>A MANE Select	NP_079413.3:p.Ile2120Asn
NM_001160227.2:c.6020T>A	NP_001153699.1:p.Ile2007Asn