Canonical Allele Identifier: CA490203535

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44867124G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574926G>T , CM000677.2:g.44574926G>T	GRCh38
NC_000015.9:g.44867124G>T , CM000677.1:g.44867124G>T	GRCh37
NC_000015.8:g.42654416G>T	NCBI36
NG_008885.1:g.93753C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4268C>A	ENSP00000453246.2:n.5867-4268C>A
ENST00000561391.2:n.2210C>A
ENST00000682065.1:c.5838C>A	ENSP00000507025.1:p.Val1946=
ENST00000682460.1:c.*2239C>A	ENSP00000508334.1:n.*2239C>A
ENST00000682495.1:c.*2474C>A	ENSP00000507166.1:n.*2474C>A
ENST00000682669.1:c.5781C>A	ENSP00000507782.1:p.Val1927=
ENST00000683186.1:c.*2745C>A	ENSP00000507268.1:n.*2745C>A
ENST00000683496.1:c.5982C>A	ENSP00000506968.1:p.Val1994=
ENST00000683734.1:c.5867-1181C>A	ENSP00000508319.1:n.5867-1181C>A
ENST00000683753.1:n.5028C>A
ENST00000684038.1:c.*2402C>A	ENSP00000507141.1:n.*2402C>A
ENST00000684235.1:c.5982C>A	ENSP00000508295.1:p.Val1994=
ENST00000684676.1:c.*131C>A	ENSP00000506948.1:n.*131C>A
ENST00000261866.12:c.5982C>A MANE Select	ENSP00000261866.7:p.Val1994=
ENST00000261866.11:c.5982C>A	ENSP00000261866.7:p.Val1994=
ENST00000427534.6:c.5982C>A	ENSP00000396110.2:p.Val1994=
ENST00000535302.6:c.5867-2106C>A	ENSP00000445278.2:n.5867-2106C>A
ENST00000558080.1:n.347C>A
ENST00000558319.5:c.5982C>A	ENSP00000453599.1:p.Val1994=
ENST00000559511.5:c.715-4268C>A
ENST00000559822.1:c.525C>A
NM_001160227.1:c.5867-2106C>A	NP_001153699.1:n.5867-2106C>A
NM_025137.3:c.5982C>A	NP_079413.3:p.Val1994=
XM_005254695.3:c.5724C>A	XP_005254752.1:p.Val1908=
XM_006720700.1:c.5838C>A	XP_006720763.1:p.Val1946=
XM_017022634.1:c.5982C>A	XP_016878123.1:p.Val1994=
XM_017022636.1:c.2859C>A	XP_016878125.1:p.Val953=
NM_025137.4:c.5982C>A MANE Select	NP_079413.3:p.Val1994=
NM_001160227.2:c.5867-2106C>A	NP_001153699.1:n.5867-2106C>A