Canonical Allele Identifier: CA392216291

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862754T>A (hg19) ; chr15:g.44570556T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570556T>A , CM000677.2:g.44570556T>A	GRCh38
NC_000015.9:g.44862754T>A , CM000677.1:g.44862754T>A	GRCh37
NC_000015.8:g.42650046T>A	NCBI36
NG_008885.1:g.98123A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.245A>T	ENSP00000453314.2:p.His82Leu
ENST00000559511.6:c.5969A>T	ENSP00000453246.2:p.His1990Leu
ENST00000682065.1:c.6302A>T	ENSP00000507025.1:p.His2101Leu
ENST00000682460.1:c.*2703A>T	ENSP00000508334.1:n.*2703A>T
ENST00000682495.1:c.*2938A>T	ENSP00000507166.1:n.*2938A>T
ENST00000682669.1:c.6245A>T	ENSP00000507782.1:p.His2082Leu
ENST00000683186.1:c.*3209A>T	ENSP00000507268.1:n.*3209A>T
ENST00000683496.1:c.*88A>T	ENSP00000506968.1:n.*88A>T
ENST00000683734.1:c.*396A>T	ENSP00000508319.1:n.*396A>T
ENST00000683753.1:n.5492A>T
ENST00000684038.1:c.*2866A>T	ENSP00000507141.1:n.*2866A>T
ENST00000684235.1:c.6446A>T	ENSP00000508295.1:p.His2149Leu
ENST00000261866.12:c.6446A>T MANE Select	ENSP00000261866.7:p.His2149Leu
ENST00000261866.11:c.6446A>T	ENSP00000261866.7:p.His2149Leu
ENST00000427534.6:c.6446A>T	ENSP00000396110.2:p.His2149Leu
ENST00000535302.6:c.6107A>T	ENSP00000445278.2:p.His2036Leu
ENST00000558138.1:c.245A>T	ENSP00000453314.1:p.His82Leu
ENST00000559347.1:n.275A>T
ENST00000559511.5:c.817A>T
ENST00000559933.1:n.515A>T
ENST00000561268.5:n.275+2127A>T
NM_001160227.1:c.6107A>T	NP_001153699.1:p.His2036Leu
NM_025137.3:c.6446A>T	NP_079413.3:p.His2149Leu
XM_005254695.3:c.6188A>T	XP_005254752.1:p.His2063Leu
XM_006720700.1:c.6302A>T	XP_006720763.1:p.His2101Leu
XM_017022634.1:c.6446A>T	XP_016878123.1:p.His2149Leu
XM_017022636.1:c.3323A>T	XP_016878125.1:p.His1108Leu
NM_025137.4:c.6446A>T MANE Select	NP_079413.3:p.His2149Leu
NM_001160227.2:c.6107A>T	NP_001153699.1:p.His2036Leu