Canonical Allele Identifier: CA392223223
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 466536
ClinVar RCV Id: RCV000552827 RCV002467872 RCV002467873 RCV001755844 RCV004024023
dbSNP Id: rs1555448989
gnomAD v4: 15-44584545-A-C
MyVariant Identifiers: chr15:g.44876743A>C (hg19) chr15:g.44584545A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44584545A>C , CM000677.2:g.44584545A>C GRCh38
NC_000015.9:g.44876743A>C , CM000677.1:g.44876743A>C GRCh37
NC_000015.8:g.42664035A>C NCBI36
NG_008885.1:g.84134T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.5135T>G ENSP00000453246.2:p.Met1712Arg
ENST00000561391.2:n.1363T>G
ENST00000682065.1:c.5122-131T>G ENSP00000507025.1:n.5122-131T>G
ENST00000682460.1:c.*1392T>G ENSP00000508334.1:n.*1392T>G
ENST00000682495.1:c.*1627T>G ENSP00000507166.1:n.*1627T>G
ENST00000682669.1:c.4934T>G ENSP00000507782.1:p.Met1645Arg
ENST00000683186.1:c.*1898T>G ENSP00000507268.1:n.*1898T>G
ENST00000683496.1:c.5135T>G ENSP00000506968.1:p.Met1712Arg
ENST00000683734.1:c.5135T>G ENSP00000508319.1:p.Met1712Arg
ENST00000683753.1:n.4181T>G
ENST00000684038.1:c.*1555T>G ENSP00000507141.1:n.*1555T>G
ENST00000684235.1:c.5135T>G ENSP00000508295.1:p.Met1712Arg
ENST00000684676.1:c.5135T>G ENSP00000506948.1:p.Met1712Arg
ENST00000261866.12:c.5135T>G MANE Select ENSP00000261866.7:p.Met1712Arg
ENST00000261866.11:c.5135T>G ENSP00000261866.7:p.Met1712Arg
ENST00000427534.6:c.5135T>G ENSP00000396110.2:p.Met1712Arg
ENST00000535302.6:c.5135T>G ENSP00000445278.2:p.Met1712Arg
ENST00000558319.5:c.5135T>G ENSP00000453599.1:p.Met1712Arg
ENST00000558790.5:n.572T>G
NM_001160227.1:c.5135T>G NP_001153699.1:p.Met1712Arg
NM_025137.3:c.5135T>G NP_079413.3:p.Met1712Arg
XM_005254695.3:c.4877T>G XP_005254752.1:p.Met1626Arg
XM_006720700.1:c.5122-131T>G XP_006720763.1:n.5122-131T>G
XM_017022634.1:c.5135T>G XP_016878123.1:p.Met1712Arg
XM_017022636.1:c.2012T>G XP_016878125.1:p.Met671Arg
XR_931917.2:n.5189T>G
NM_025137.4:c.5135T>G MANE Select NP_079413.3:p.Met1712Arg
NM_001160227.2:c.5135T>G NP_001153699.1:p.Met1712Arg
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