Canonical Allele Identifier: CA16614459

Gene: SPG11

Linked Data

• ClinVar Variation Id: 406505
• ClinVar RCV Id: RCV000473393
• dbSNP Id: rs1060501168
• MyVariant Identifiers: chr15:g.44867240C>A (hg19) ; chr15:g.44575042C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44575042C>A , CM000677.2:g.44575042C>A	GRCh38
NC_000015.9:g.44867240C>A , CM000677.1:g.44867240C>A	GRCh37
NC_000015.8:g.42654532C>A	NCBI36
NG_008885.1:g.93637G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4384G>T	ENSP00000453246.2:n.5867-4384G>T
ENST00000561391.2:n.2095-1G>T
ENST00000682065.1:c.5723-1G>T	ENSP00000507025.1:n.5723-1G>T
ENST00000682460.1:c.*2124-1G>T	ENSP00000508334.1:n.*2124-1G>T
ENST00000682495.1:c.*2359-1G>T	ENSP00000507166.1:n.*2359-1G>T
ENST00000682669.1:c.5666-1G>T	ENSP00000507782.1:n.5666-1G>T
ENST00000683186.1:c.*2630-1G>T	ENSP00000507268.1:n.*2630-1G>T
ENST00000683496.1:c.5867-1G>T	ENSP00000506968.1:n.5867-1G>T
ENST00000683734.1:c.5867-1297G>T	ENSP00000508319.1:n.5867-1297G>T
ENST00000683753.1:n.4913-1G>T
ENST00000684038.1:c.*2287-1G>T	ENSP00000507141.1:n.*2287-1G>T
ENST00000684235.1:c.5867-1G>T	ENSP00000508295.1:n.5867-1G>T
ENST00000684676.1:c.*16-1G>T	ENSP00000506948.1:n.*16-1G>T
ENST00000261866.12:c.5867-1G>T MANE Select	ENSP00000261866.7:n.5867-1G>T
ENST00000261866.11:c.5867-1G>T	ENSP00000261866.7:n.5867-1G>T
ENST00000427534.6:c.5867-1G>T	ENSP00000396110.2:n.5867-1G>T
ENST00000535302.6:c.5867-2222G>T	ENSP00000445278.2:n.5867-2222G>T
ENST00000558080.1:n.231G>T
ENST00000558319.5:c.5867-1G>T	ENSP00000453599.1:n.5867-1G>T
ENST00000559511.5:c.715-4384G>T
ENST00000559822.1:c.410-1G>T
NM_001160227.1:c.5867-2222G>T	NP_001153699.1:n.5867-2222G>T
NM_025137.3:c.5867-1G>T	NP_079413.3:n.5867-1G>T
XM_005254695.3:c.5609-1G>T	XP_005254752.1:n.5609-1G>T
XM_006720700.1:c.5723-1G>T	XP_006720763.1:n.5723-1G>T
XM_017022634.1:c.5867-1G>T	XP_016878123.1:n.5867-1G>T
XM_017022636.1:c.2744-1G>T	XP_016878125.1:n.2744-1G>T
NM_025137.4:c.5867-1G>T MANE Select	NP_079413.3:n.5867-1G>T
NM_001160227.2:c.5867-2222G>T	NP_001153699.1:n.5867-2222G>T