Canonical Allele Identifier: CA490203692

Gene: SPG11

Linked Data

• dbSNP Id: rs2082505262
• MyVariant Identifiers: chr15:g.44867238A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44575040A>C , CM000677.2:g.44575040A>C	GRCh38
NC_000015.9:g.44867238A>C , CM000677.1:g.44867238A>C	GRCh37
NC_000015.8:g.42654530A>C	NCBI36
NG_008885.1:g.93639T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4382T>G	ENSP00000453246.2:n.5867-4382T>G
ENST00000561391.2:n.2096T>G
ENST00000682065.1:c.5724T>G	ENSP00000507025.1:p.Thr1908=
ENST00000682460.1:c.*2125T>G	ENSP00000508334.1:n.*2125T>G
ENST00000682495.1:c.*2360T>G	ENSP00000507166.1:n.*2360T>G
ENST00000682669.1:c.5667T>G	ENSP00000507782.1:p.Thr1889=
ENST00000683186.1:c.*2631T>G	ENSP00000507268.1:n.*2631T>G
ENST00000683496.1:c.5868T>G	ENSP00000506968.1:p.Thr1956=
ENST00000683734.1:c.5867-1295T>G	ENSP00000508319.1:n.5867-1295T>G
ENST00000683753.1:n.4914T>G
ENST00000684038.1:c.*2288T>G	ENSP00000507141.1:n.*2288T>G
ENST00000684235.1:c.5868T>G	ENSP00000508295.1:p.Thr1956=
ENST00000684676.1:c.*17T>G	ENSP00000506948.1:n.*17T>G
ENST00000261866.12:c.5868T>G MANE Select	ENSP00000261866.7:p.Thr1956=
ENST00000261866.11:c.5868T>G	ENSP00000261866.7:p.Thr1956=
ENST00000427534.6:c.5868T>G	ENSP00000396110.2:p.Thr1956=
ENST00000535302.6:c.5867-2220T>G	ENSP00000445278.2:n.5867-2220T>G
ENST00000558080.1:n.233T>G
ENST00000558319.5:c.5868T>G	ENSP00000453599.1:p.Thr1956=
ENST00000559511.5:c.715-4382T>G
ENST00000559822.1:c.411T>G
NM_001160227.1:c.5867-2220T>G	NP_001153699.1:n.5867-2220T>G
NM_025137.3:c.5868T>G	NP_079413.3:p.Thr1956=
XM_005254695.3:c.5610T>G	XP_005254752.1:p.Thr1870=
XM_006720700.1:c.5724T>G	XP_006720763.1:p.Thr1908=
XM_017022634.1:c.5868T>G	XP_016878123.1:p.Thr1956=
XM_017022636.1:c.2745T>G	XP_016878125.1:p.Thr915=
NM_025137.4:c.5868T>G MANE Select	NP_079413.3:p.Thr1956=
NM_001160227.2:c.5867-2220T>G	NP_001153699.1:n.5867-2220T>G