Canonical Allele Identifier: CA344377
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 41345
ClinVar RCV Id: RCV000034246 RCV001847637 RCV002467535 RCV002467536
dbSNP Id: rs312262780
gnomAD v4: 15-44570521-T-C
MyVariant Identifiers: chr15:g.44862719T>C (hg19) chr15:g.44570521T>C (hg38)
PubMed: PMID:18079167 PMID:20301389
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44570521T>C , CM000677.2:g.44570521T>C GRCh38
NC_000015.9:g.44862719T>C , CM000677.1:g.44862719T>C GRCh37
NC_000015.8:g.42650011T>C NCBI36
NG_008885.1:g.98158A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000558138.2:c.276+4A>G ENSP00000453314.2:n.276+4A>G
ENST00000559511.6:c.6000+4A>G ENSP00000453246.2:n.6000+4A>G
ENST00000682065.1:c.6333+4A>G ENSP00000507025.1:n.6333+4A>G
ENST00000682460.1:c.*2734+4A>G ENSP00000508334.1:n.*2734+4A>G
ENST00000682495.1:c.*2969+4A>G ENSP00000507166.1:n.*2969+4A>G
ENST00000682669.1:c.6276+4A>G ENSP00000507782.1:n.6276+4A>G
ENST00000683186.1:c.*3240+4A>G ENSP00000507268.1:n.*3240+4A>G
ENST00000683496.1:c.*119+4A>G ENSP00000506968.1:n.*119+4A>G
ENST00000683734.1:c.*427+4A>G ENSP00000508319.1:n.*427+4A>G
ENST00000683753.1:n.5523+4A>G
ENST00000684038.1:c.*2897+4A>G ENSP00000507141.1:n.*2897+4A>G
ENST00000684235.1:c.6477+4A>G ENSP00000508295.1:n.6477+4A>G
ENST00000261866.12:c.6477+4A>G MANE Select ENSP00000261866.7:n.6477+4A>G
ENST00000261866.11:c.6477+4A>G ENSP00000261866.7:n.6477+4A>G
ENST00000427534.6:c.6477+4A>G ENSP00000396110.2:n.6477+4A>G
ENST00000535302.6:c.6138+4A>G ENSP00000445278.2:n.6138+4A>G
ENST00000558138.1:c.276+4A>G ENSP00000453314.1:n.276+4A>G
ENST00000559347.1:n.306+4A>G
ENST00000559511.5:c.848+4A>G
ENST00000561268.5:n.275+2162A>G
NM_001160227.1:c.6138+4A>G NP_001153699.1:n.6138+4A>G
NM_025137.3:c.6477+4A>G NP_079413.3:n.6477+4A>G
XM_005254695.3:c.6219+4A>G XP_005254752.1:n.6219+4A>G
XM_006720700.1:c.6333+4A>G XP_006720763.1:n.6333+4A>G
XM_017022634.1:c.6477+4A>G XP_016878123.1:n.6477+4A>G
XM_017022636.1:c.3354+4A>G XP_016878125.1:n.3354+4A>G
NM_025137.4:c.6477+4A>G MANE Select NP_079413.3:n.6477+4A>G
NM_001160227.2:c.6138+4A>G NP_001153699.1:n.6138+4A>G
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