Canonical Allele Identifier: CA392235937

Gene: SPG11

Linked Data

• ClinVar Variation Id: 1424829
• ClinVar RCV Id: RCV001924067
• dbSNP Id: rs2084776558
• MyVariant Identifiers: chr15:g.44943752G>T (hg19) ; chr15:g.44651554G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44651554G>T , CM000677.2:g.44651554G>T	GRCh38
NC_000015.9:g.44943752G>T , CM000677.1:g.44943752G>T	GRCh37
NC_000015.8:g.42731044G>T	NCBI36
NG_008885.1:g.17125C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.1393C>A	ENSP00000453246.2:p.Leu465Ile
ENST00000682065.1:c.1393C>A	ENSP00000507025.1:p.Leu465Ile
ENST00000682410.1:n.1422C>A
ENST00000682460.1:c.1393C>A	ENSP00000508334.1:p.Leu465Ile
ENST00000682495.1:c.1393C>A	ENSP00000507166.1:p.Leu465Ile
ENST00000682648.1:n.1338C>A
ENST00000682669.1:c.1393C>A	ENSP00000507782.1:p.Leu465Ile
ENST00000682788.1:c.1393C>A	ENSP00000508089.1:p.Leu465Ile
ENST00000682877.1:n.1424C>A
ENST00000682915.1:c.1393C>A	ENSP00000507493.1:p.Leu465Ile
ENST00000683121.1:c.1393C>A	ENSP00000507557.1:p.Leu465Ile
ENST00000683186.1:c.1393C>A	ENSP00000507268.1:p.Leu465Ile
ENST00000683255.1:c.1393C>A	ENSP00000508340.1:p.Leu465Ile
ENST00000683496.1:c.1393C>A	ENSP00000506968.1:p.Leu465Ile
ENST00000683573.1:c.1393C>A	ENSP00000508031.1:p.Leu465Ile
ENST00000683734.1:c.1393C>A	ENSP00000508319.1:p.Leu465Ile
ENST00000683753.1:n.517C>A
ENST00000684038.1:c.1135C>A	ENSP00000507141.1:p.Leu379Ile
ENST00000684235.1:c.1393C>A	ENSP00000508295.1:p.Leu465Ile
ENST00000684490.1:n.1408C>A
ENST00000684676.1:c.1393C>A	ENSP00000506948.1:p.Leu465Ile
ENST00000261866.12:c.1393C>A MANE Select	ENSP00000261866.7:p.Leu465Ile
ENST00000261866.11:c.1393C>A	ENSP00000261866.7:p.Leu465Ile
ENST00000427534.6:c.1393C>A	ENSP00000396110.2:p.Leu465Ile
ENST00000535302.6:c.1393C>A	ENSP00000445278.2:p.Leu465Ile
ENST00000557866.1:c.91C>A	ENSP00000453227.1:p.Leu31Ile
ENST00000558319.5:c.1393C>A	ENSP00000453599.1:p.Leu465Ile
ENST00000559193.5:c.1393C>A	ENSP00000453848.1:p.Leu465Ile
NM_001160227.1:c.1393C>A	NP_001153699.1:p.Leu465Ile
NM_025137.3:c.1393C>A	NP_079413.3:p.Leu465Ile
XM_005254695.3:c.1135C>A	XP_005254752.1:p.Leu379Ile
XM_006720700.1:c.1393C>A	XP_006720763.1:p.Leu465Ile
XM_006720701.2:c.1393C>A	XP_006720764.1:p.Leu465Ile
XM_011522093.1:c.1393C>A	XP_011520395.1:p.Leu465Ile
XR_931917.1:n.1424C>A
XM_006720701.3:c.1393C>A	XP_006720764.1:p.Leu465Ile
XM_017022634.1:c.1393C>A	XP_016878123.1:p.Leu465Ile
XM_017022635.2:c.1393C>A	XP_016878124.1:p.Leu465Ile
XR_001751402.1:n.1424C>A
XR_931917.2:n.1424C>A
NM_025137.4:c.1393C>A MANE Select	NP_079413.3:p.Leu465Ile
NM_001160227.2:c.1393C>A	NP_001153699.1:p.Leu465Ile