Canonical Allele Identifier: CA658658292

Gene: SPG11

Linked Data

• ClinVar Variation Id: 466526
• ClinVar RCV Id: RCV000544562 ; RCV001848945 ; RCV002467866 ; RCV002467867
• dbSNP Id: rs1555451101
• gnomAD v4: 15-44596775-G-C
• MyVariant Identifiers: chr15:g.44888973G>C (hg19) ; chr15:g.44596775G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44596775G>C , CM000677.2:g.44596775G>C	GRCh38
NC_000015.9:g.44888973G>C , CM000677.1:g.44888973G>C	GRCh37
NC_000015.8:g.42676265G>C	NCBI36
NG_008885.1:g.71904C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.4161+9C>G	ENSP00000453246.2:n.4161+9C>G
ENST00000561391.2:n.389+9C>G
ENST00000682065.1:c.4161+9C>G	ENSP00000507025.1:n.4161+9C>G
ENST00000682460.1:c.*581+9C>G	ENSP00000508334.1:n.*581+9C>G
ENST00000682495.1:c.*653+9C>G	ENSP00000507166.1:n.*653+9C>G
ENST00000682669.1:c.3960+9C>G	ENSP00000507782.1:n.3960+9C>G
ENST00000682788.1:c.4161+9C>G	ENSP00000508089.1:n.4161+9C>G
ENST00000683121.1:c.4161+9C>G	ENSP00000507557.1:n.4161+9C>G
ENST00000683186.1:c.*924+9C>G	ENSP00000507268.1:n.*924+9C>G
ENST00000683496.1:c.4161+9C>G	ENSP00000506968.1:n.4161+9C>G
ENST00000683734.1:c.4161+9C>G	ENSP00000508319.1:n.4161+9C>G
ENST00000683753.1:n.3207+9C>G
ENST00000684038.1:c.*581+9C>G	ENSP00000507141.1:n.*581+9C>G
ENST00000684235.1:c.4161+9C>G	ENSP00000508295.1:n.4161+9C>G
ENST00000684676.1:c.4161+9C>G	ENSP00000506948.1:n.4161+9C>G
ENST00000261866.12:c.4161+9C>G MANE Select	ENSP00000261866.7:n.4161+9C>G
ENST00000261866.11:c.4161+9C>G	ENSP00000261866.7:n.4161+9C>G
ENST00000427534.6:c.4161+9C>G	ENSP00000396110.2:n.4161+9C>G
ENST00000535302.6:c.4161+9C>G	ENSP00000445278.2:n.4161+9C>G
ENST00000558319.5:c.4161+9C>G	ENSP00000453599.1:n.4161+9C>G
ENST00000561391.1:n.389+9C>G
NM_001160227.1:c.4161+9C>G	NP_001153699.1:n.4161+9C>G
NM_025137.3:c.4161+9C>G	NP_079413.3:n.4161+9C>G
XM_005254695.3:c.3903+9C>G	XP_005254752.1:n.3903+9C>G
XM_006720700.1:c.4161+9C>G	XP_006720763.1:n.4161+9C>G
XM_006720701.2:c.4161+9C>G	XP_006720764.1:n.4161+9C>G
XR_931917.1:n.4192+9C>G
XM_006720701.3:c.4161+9C>G	XP_006720764.1:n.4161+9C>G
XM_017022634.1:c.4161+9C>G	XP_016878123.1:n.4161+9C>G
XM_017022635.2:c.4161+9C>G	XP_016878124.1:n.4161+9C>G
XM_017022636.1:c.1038+9C>G	XP_016878125.1:n.1038+9C>G
XR_931917.2:n.4192+9C>G
NM_025137.4:c.4161+9C>G MANE Select	NP_079413.3:n.4161+9C>G
NM_001160227.2:c.4161+9C>G	NP_001153699.1:n.4161+9C>G