Canonical Allele Identifier: CA270074844
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 264661
ClinVar RCV Id: RCV000239393 RCV002518741
dbSNP Id: rs879255274
gnomAD v4: 15-44622723-C-T
MyVariant Identifiers: chr15:g.44914921C>T (hg19) chr15:g.44622723C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44622723C>T , CM000677.2:g.44622723C>T GRCh38
NC_000015.9:g.44914921C>T , CM000677.1:g.44914921C>T GRCh37
NC_000015.8:g.42702213C>T NCBI36
NG_008885.1:g.45956G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559511.6:c.2316+5G>A ENSP00000453246.2:n.2316+5G>A
ENST00000682065.1:c.2316+5G>A ENSP00000507025.1:n.2316+5G>A
ENST00000682460.1:c.2316+5G>A ENSP00000508334.1:n.2316+5G>A
ENST00000682495.1:c.2316+5G>A ENSP00000507166.1:n.2316+5G>A
ENST00000682669.1:c.2316+5G>A ENSP00000507782.1:n.2316+5G>A
ENST00000682788.1:c.2316+5G>A ENSP00000508089.1:n.2316+5G>A
ENST00000682877.1:n.2352G>A
ENST00000682915.1:c.2316+5G>A ENSP00000507493.1:n.2316+5G>A
ENST00000683121.1:c.2316+5G>A ENSP00000507557.1:n.2316+5G>A
ENST00000683186.1:c.2316+5G>A ENSP00000507268.1:n.2316+5G>A
ENST00000683255.1:c.2316+5G>A ENSP00000508340.1:n.2316+5G>A
ENST00000683496.1:c.2316+5G>A ENSP00000506968.1:n.2316+5G>A
ENST00000683573.1:c.2316+5G>A ENSP00000508031.1:n.2316+5G>A
ENST00000683734.1:c.2316+5G>A ENSP00000508319.1:n.2316+5G>A
ENST00000683753.1:n.1440+5G>A
ENST00000684038.1:c.2058+5G>A ENSP00000507141.1:n.2058+5G>A
ENST00000684235.1:c.2316+5G>A ENSP00000508295.1:n.2316+5G>A
ENST00000684676.1:c.2316+5G>A ENSP00000506948.1:n.2316+5G>A
ENST00000261866.12:c.2316+5G>A MANE Select ENSP00000261866.7:n.2316+5G>A
ENST00000261866.11:c.2316+5G>A ENSP00000261866.7:n.2316+5G>A
ENST00000427534.6:c.2316+5G>A ENSP00000396110.2:n.2316+5G>A
ENST00000535302.6:c.2316+5G>A ENSP00000445278.2:n.2316+5G>A
ENST00000558319.5:c.2316+5G>A ENSP00000453599.1:n.2316+5G>A
ENST00000559193.5:c.2321G>A ENSP00000453848.1:p.Gly774Asp
NM_001160227.1:c.2316+5G>A NP_001153699.1:n.2316+5G>A
NM_025137.3:c.2316+5G>A NP_079413.3:n.2316+5G>A
XM_005254695.3:c.2058+5G>A XP_005254752.1:n.2058+5G>A
XM_006720700.1:c.2316+5G>A XP_006720763.1:n.2316+5G>A
XM_006720701.2:c.2316+5G>A XP_006720764.1:n.2316+5G>A
XM_011522093.1:c.2316+5G>A XP_011520395.1:n.2316+5G>A
XR_931917.1:n.2347+5G>A
XM_006720701.3:c.2316+5G>A XP_006720764.1:n.2316+5G>A
XM_017022634.1:c.2316+5G>A XP_016878123.1:n.2316+5G>A
XM_017022635.2:c.2316+5G>A XP_016878124.1:n.2316+5G>A
XM_017022636.1:c.-701+5G>A XP_016878125.1:n.-701+5G>A
XR_001751402.1:n.2347+5G>A
XR_931917.2:n.2347+5G>A
NM_025137.4:c.2316+5G>A MANE Select NP_079413.3:n.2316+5G>A
NM_001160227.2:c.2316+5G>A NP_001153699.1:n.2316+5G>A
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