Canonical Allele Identifier: CA16043489
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 374071
ClinVar RCV Id: RCV000415188 RCV001197643
dbSNP Id: rs1057518874
gnomAD v4: 15-44598738-C-A
MyVariant Identifiers: chr15:g.44890936C>A (hg19) chr15:g.44598738C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44598738C>A , CM000677.2:g.44598738C>A GRCh38
NC_000015.9:g.44890936C>A , CM000677.1:g.44890936C>A GRCh37
NC_000015.8:g.42678228C>A NCBI36
NG_008885.1:g.69941G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000559511.6:c.3785G>T ENSP00000453246.2:p.Gly1262Val
ENST00000682065.1:c.3785G>T ENSP00000507025.1:p.Gly1262Val
ENST00000682460.1:c.*205G>T ENSP00000508334.1:n.*205G>T
ENST00000682495.1:c.*277G>T ENSP00000507166.1:n.*277G>T
ENST00000682669.1:c.3584G>T ENSP00000507782.1:p.Gly1195Val
ENST00000682788.1:c.3785G>T ENSP00000508089.1:p.Gly1262Val
ENST00000682915.1:c.3878G>T ENSP00000507493.1:n.3878G>T
ENST00000683121.1:c.3785G>T ENSP00000507557.1:p.Gly1262Val
ENST00000683186.1:c.*548G>T ENSP00000507268.1:n.*548G>T
ENST00000683496.1:c.3785G>T ENSP00000506968.1:p.Gly1262Val
ENST00000683734.1:c.3785G>T ENSP00000508319.1:p.Gly1262Val
ENST00000683753.1:n.2831G>T
ENST00000683838.1:n.859G>T
ENST00000684038.1:c.*205G>T ENSP00000507141.1:n.*205G>T
ENST00000684235.1:c.3785G>T ENSP00000508295.1:p.Gly1262Val
ENST00000684676.1:c.3785G>T ENSP00000506948.1:p.Gly1262Val
ENST00000261866.12:c.3785G>T MANE Select ENSP00000261866.7:p.Gly1262Val
ENST00000261866.11:c.3785G>T ENSP00000261866.7:p.Gly1262Val
ENST00000427534.6:c.3785G>T ENSP00000396110.2:p.Gly1262Val
ENST00000535302.6:c.3785G>T ENSP00000445278.2:p.Gly1262Val
ENST00000558093.1:n.399G>T
ENST00000558319.5:c.3785G>T ENSP00000453599.1:p.Gly1262Val
NM_001160227.1:c.3785G>T NP_001153699.1:p.Gly1262Val
NM_025137.3:c.3785G>T NP_079413.3:p.Gly1262Val
XM_005254695.3:c.3527G>T XP_005254752.1:p.Gly1176Val
XM_006720700.1:c.3785G>T XP_006720763.1:p.Gly1262Val
XM_006720701.2:c.3785G>T XP_006720764.1:p.Gly1262Val
XM_011522093.1:c.3687-365G>T XP_011520395.1:n.3687-365G>T
XR_931917.1:n.3816G>T
XM_006720701.3:c.3785G>T XP_006720764.1:p.Gly1262Val
XM_017022634.1:c.3785G>T XP_016878123.1:p.Gly1262Val
XM_017022635.2:c.3785G>T XP_016878124.1:p.Gly1262Val
XM_017022636.1:c.662G>T XP_016878125.1:p.Gly221Val
XR_001751402.1:n.3718-365G>T
XR_931917.2:n.3816G>T
NM_025137.4:c.3785G>T MANE Select NP_079413.3:p.Gly1262Val
NM_001160227.2:c.3785G>T NP_001153699.1:p.Gly1262Val
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