Canonical Allele Identifier: CA16614460

Gene: SPG11

Linked Data

• ClinVar Variation Id: 406526
• ClinVar RCV Id: RCV000459100
• dbSNP Id: rs1060501176
• MyVariant Identifiers: chr15:g.44907609A>T (hg19) ; chr15:g.44615411A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44615411A>T , CM000677.2:g.44615411A>T	GRCh38
NC_000015.9:g.44907609A>T , CM000677.1:g.44907609A>T	GRCh37
NC_000015.8:g.42694901A>T	NCBI36
NG_008885.1:g.53268T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.2990T>A	ENSP00000453246.2:p.Leu997Ter
ENST00000682065.1:c.2990T>A	ENSP00000507025.1:p.Leu997Ter
ENST00000682460.1:c.2990T>A	ENSP00000508334.1:p.Leu997Ter
ENST00000682495.1:c.2990T>A	ENSP00000507166.1:p.Leu997Ter
ENST00000682669.1:c.2990T>A	ENSP00000507782.1:p.Leu997Ter
ENST00000682788.1:c.2990T>A	ENSP00000508089.1:p.Leu997Ter
ENST00000682915.1:c.2990T>A	ENSP00000507493.1:p.Leu997Ter
ENST00000683121.1:c.2990T>A	ENSP00000507557.1:p.Leu997Ter
ENST00000683186.1:c.2990T>A	ENSP00000507268.1:p.Leu997Ter
ENST00000683255.1:c.2990T>A	ENSP00000508340.1:p.Leu997Ter
ENST00000683496.1:c.2990T>A	ENSP00000506968.1:p.Leu997Ter
ENST00000683573.1:c.*205T>A	ENSP00000508031.1:n.*205T>A
ENST00000683734.1:c.2990T>A	ENSP00000508319.1:p.Leu997Ter
ENST00000683753.1:n.2114T>A
ENST00000684038.1:c.2732T>A	ENSP00000507141.1:p.Leu911Ter
ENST00000684235.1:c.2990T>A	ENSP00000508295.1:p.Leu997Ter
ENST00000684676.1:c.2990T>A	ENSP00000506948.1:p.Leu997Ter
ENST00000261866.12:c.2990T>A MANE Select	ENSP00000261866.7:p.Leu997Ter
ENST00000261866.11:c.2990T>A	ENSP00000261866.7:p.Leu997Ter
ENST00000427534.6:c.2990T>A	ENSP00000396110.2:p.Leu997Ter
ENST00000535302.6:c.2990T>A	ENSP00000445278.2:p.Leu997Ter
ENST00000558319.5:c.2990T>A	ENSP00000453599.1:p.Leu997Ter
ENST00000560435.1:c.337T>A	ENSP00000452629.1:n.337T>A
NM_001160227.1:c.2990T>A	NP_001153699.1:p.Leu997Ter
NM_025137.3:c.2990T>A	NP_079413.3:p.Leu997Ter
XM_005254695.3:c.2732T>A	XP_005254752.1:p.Leu911Ter
XM_006720700.1:c.2990T>A	XP_006720763.1:p.Leu997Ter
XM_006720701.2:c.2990T>A	XP_006720764.1:p.Leu997Ter
XM_011522093.1:c.2990T>A	XP_011520395.1:p.Leu997Ter
XR_931917.1:n.3021T>A
XM_006720701.3:c.2990T>A	XP_006720764.1:p.Leu997Ter
XM_017022634.1:c.2990T>A	XP_016878123.1:p.Leu997Ter
XM_017022635.2:c.2990T>A	XP_016878124.1:p.Leu997Ter
XM_017022636.1:c.-27T>A	XP_016878125.1:n.-27T>A
XR_001751402.1:n.3021T>A
XR_931917.2:n.3021T>A
NM_025137.4:c.2990T>A MANE Select	NP_079413.3:p.Leu997Ter
NM_001160227.2:c.2990T>A	NP_001153699.1:p.Leu997Ter