Canonical Allele Identifier: CA490329325

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44865761A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573563A>T , CM000677.2:g.44573563A>T	GRCh38
NC_000015.9:g.44865761A>T , CM000677.1:g.44865761A>T	GRCh37
NC_000015.8:g.42653053A>T	NCBI36
NG_008885.1:g.95116T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559511.6:c.5867-2905T>A	ENSP00000453246.2:n.5867-2905T>A
ENST00000561391.2:n.2417T>A
ENST00000682065.1:c.6045T>A	ENSP00000507025.1:p.Thr2015=
ENST00000682460.1:c.*2446T>A	ENSP00000508334.1:n.*2446T>A
ENST00000682495.1:c.*2681T>A	ENSP00000507166.1:n.*2681T>A
ENST00000682669.1:c.5988T>A	ENSP00000507782.1:p.Thr1996=
ENST00000683186.1:c.*2952T>A	ENSP00000507268.1:n.*2952T>A
ENST00000683496.1:c.6006+1339T>A	ENSP00000506968.1:n.6006+1339T>A
ENST00000683734.1:c.*139T>A	ENSP00000508319.1:n.*139T>A
ENST00000683753.1:n.5235T>A
ENST00000684038.1:c.*2609T>A	ENSP00000507141.1:n.*2609T>A
ENST00000684235.1:c.6189T>A	ENSP00000508295.1:p.Thr2063=
ENST00000684676.1:c.*338T>A	ENSP00000506948.1:n.*338T>A
ENST00000261866.12:c.6189T>A MANE Select	ENSP00000261866.7:p.Thr2063=
ENST00000261866.11:c.6189T>A	ENSP00000261866.7:p.Thr2063=
ENST00000427534.6:c.6189T>A	ENSP00000396110.2:p.Thr2063=
ENST00000535302.6:c.5867-743T>A	ENSP00000445278.2:n.5867-743T>A
ENST00000558080.1:n.554T>A
ENST00000558319.5:c.6189T>A	ENSP00000453599.1:p.Thr2063=
ENST00000559511.5:c.715-2905T>A
ENST00000559933.1:n.258T>A
ENST00000561268.5:n.121T>A
NM_001160227.1:c.5867-743T>A	NP_001153699.1:n.5867-743T>A
NM_025137.3:c.6189T>A	NP_079413.3:p.Thr2063=
XM_005254695.3:c.5931T>A	XP_005254752.1:p.Thr1977=
XM_006720700.1:c.6045T>A	XP_006720763.1:p.Thr2015=
XM_017022634.1:c.6189T>A	XP_016878123.1:p.Thr2063=
XM_017022636.1:c.3066T>A	XP_016878125.1:p.Thr1022=
NM_025137.4:c.6189T>A MANE Select	NP_079413.3:p.Thr2063=
NM_001160227.2:c.5867-743T>A	NP_001153699.1:n.5867-743T>A