Canonical Allele Identifier: CA392218633

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44867127C>A (hg19) ; chr15:g.44574929C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574929C>A , CM000677.2:g.44574929C>A	GRCh38
NC_000015.9:g.44867127C>A , CM000677.1:g.44867127C>A	GRCh37
NC_000015.8:g.42654419C>A	NCBI36
NG_008885.1:g.93750G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559511.6:c.5867-4271G>T	ENSP00000453246.2:n.5867-4271G>T
ENST00000561391.2:n.2207G>T
ENST00000682065.1:c.5835G>T	ENSP00000507025.1:p.Gln1945His
ENST00000682460.1:c.*2236G>T	ENSP00000508334.1:n.*2236G>T
ENST00000682495.1:c.*2471G>T	ENSP00000507166.1:n.*2471G>T
ENST00000682669.1:c.5778G>T	ENSP00000507782.1:p.Gln1926His
ENST00000683186.1:c.*2742G>T	ENSP00000507268.1:n.*2742G>T
ENST00000683496.1:c.5979G>T	ENSP00000506968.1:p.Gln1993His
ENST00000683734.1:c.5867-1184G>T	ENSP00000508319.1:n.5867-1184G>T
ENST00000683753.1:n.5025G>T
ENST00000684038.1:c.*2399G>T	ENSP00000507141.1:n.*2399G>T
ENST00000684235.1:c.5979G>T	ENSP00000508295.1:p.Gln1993His
ENST00000684676.1:c.*128G>T	ENSP00000506948.1:n.*128G>T
ENST00000261866.12:c.5979G>T MANE Select	ENSP00000261866.7:p.Gln1993His
ENST00000261866.11:c.5979G>T	ENSP00000261866.7:p.Gln1993His
ENST00000427534.6:c.5979G>T	ENSP00000396110.2:p.Gln1993His
ENST00000535302.6:c.5867-2109G>T	ENSP00000445278.2:n.5867-2109G>T
ENST00000558080.1:n.344G>T
ENST00000558319.5:c.5979G>T	ENSP00000453599.1:p.Gln1993His
ENST00000559511.5:c.715-4271G>T
ENST00000559822.1:c.522G>T
NM_001160227.1:c.5867-2109G>T	NP_001153699.1:n.5867-2109G>T
NM_025137.3:c.5979G>T	NP_079413.3:p.Gln1993His
XM_005254695.3:c.5721G>T	XP_005254752.1:p.Gln1907His
XM_006720700.1:c.5835G>T	XP_006720763.1:p.Gln1945His
XM_017022634.1:c.5979G>T	XP_016878123.1:p.Gln1993His
XM_017022636.1:c.2856G>T	XP_016878125.1:p.Gln952His
NM_025137.4:c.5979G>T MANE Select	NP_079413.3:p.Gln1993His
NM_001160227.2:c.5867-2109G>T	NP_001153699.1:n.5867-2109G>T