Canonical Allele Identifier: CA344372

Gene: SPG11

Linked Data

• ClinVar Variation Id: 41341
• ClinVar RCV Id: RCV000034242 ; RCV000594035 ; RCV002467533 ; RCV002467534 ; RCV002477051
• dbSNP Id: rs149003934
• ExAC: 15:44865793 C / T
• gnomAD v2: 15-44865793-C-T
• gnomAD v3: 15-44573595-C-T
• gnomAD v4: 15-44573595-C-T
• MyVariant Identifiers: chr15:g.44865793C>T (hg19) ; chr15:g.44573595C>T (hg38)
• PubMed: PMID:19196735 ; PMID:20301389

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573595C>T , CM000677.2:g.44573595C>T	GRCh38
NC_000015.9:g.44865793C>T , CM000677.1:g.44865793C>T	GRCh37
NC_000015.8:g.42653085C>T	NCBI36
NG_008885.1:g.95084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-2937G>A	ENSP00000453246.2:n.5867-2937G>A
ENST00000561391.2:n.2385G>A
ENST00000682065.1:c.6013G>A	ENSP00000507025.1:p.Val2005Met
ENST00000682460.1:c.*2414G>A	ENSP00000508334.1:n.*2414G>A
ENST00000682495.1:c.*2649G>A	ENSP00000507166.1:n.*2649G>A
ENST00000682669.1:c.5956G>A	ENSP00000507782.1:p.Val1986Met
ENST00000683186.1:c.*2920G>A	ENSP00000507268.1:n.*2920G>A
ENST00000683496.1:c.6006+1307G>A	ENSP00000506968.1:n.6006+1307G>A
ENST00000683734.1:c.*107G>A	ENSP00000508319.1:n.*107G>A
ENST00000683753.1:n.5203G>A
ENST00000684038.1:c.*2577G>A	ENSP00000507141.1:n.*2577G>A
ENST00000684235.1:c.6157G>A	ENSP00000508295.1:p.Val2053Met
ENST00000684676.1:c.*306G>A	ENSP00000506948.1:n.*306G>A
ENST00000261866.12:c.6157G>A MANE Select	ENSP00000261866.7:p.Val2053Met
ENST00000261866.11:c.6157G>A	ENSP00000261866.7:p.Val2053Met
ENST00000427534.6:c.6157G>A	ENSP00000396110.2:p.Val2053Met
ENST00000535302.6:c.5867-775G>A	ENSP00000445278.2:n.5867-775G>A
ENST00000558080.1:n.522G>A
ENST00000558319.5:c.6157G>A	ENSP00000453599.1:p.Val2053Met
ENST00000559511.5:c.715-2937G>A
ENST00000559933.1:n.226G>A
ENST00000561268.5:n.89G>A
NM_001160227.1:c.5867-775G>A	NP_001153699.1:n.5867-775G>A
NM_025137.3:c.6157G>A	NP_079413.3:p.Val2053Met
XM_005254695.3:c.5899G>A	XP_005254752.1:p.Val1967Met
XM_006720700.1:c.6013G>A	XP_006720763.1:p.Val2005Met
XM_017022634.1:c.6157G>A	XP_016878123.1:p.Val2053Met
XM_017022636.1:c.3034G>A	XP_016878125.1:p.Val1012Met
NM_025137.4:c.6157G>A MANE Select	NP_079413.3:p.Val2053Met
NM_001160227.2:c.5867-775G>A	NP_001153699.1:n.5867-775G>A