Canonical Allele Identifier: CA392223124

Gene: SPG11

Linked Data

• ClinVar Variation Id: 961259
• ClinVar RCV Id: RCV001234927
• dbSNP Id: rs1252919994
• gnomAD v2: 15-44876701-G-C
• gnomAD v4: 15-44584503-G-C
• MyVariant Identifiers: chr15:g.44876701G>C (hg19) ; chr15:g.44584503G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584503G>C , CM000677.2:g.44584503G>C	GRCh38
NC_000015.9:g.44876701G>C , CM000677.1:g.44876701G>C	GRCh37
NC_000015.8:g.42663993G>C	NCBI36
NG_008885.1:g.84176C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5177C>G	ENSP00000453246.2:p.Ala1726Gly
ENST00000561391.2:n.1405C>G
ENST00000682065.1:c.5122-89C>G	ENSP00000507025.1:n.5122-89C>G
ENST00000682460.1:c.*1434C>G	ENSP00000508334.1:n.*1434C>G
ENST00000682495.1:c.*1669C>G	ENSP00000507166.1:n.*1669C>G
ENST00000682669.1:c.4976C>G	ENSP00000507782.1:p.Ala1659Gly
ENST00000683186.1:c.*1940C>G	ENSP00000507268.1:n.*1940C>G
ENST00000683496.1:c.5177C>G	ENSP00000506968.1:p.Ala1726Gly
ENST00000683734.1:c.5177C>G	ENSP00000508319.1:p.Ala1726Gly
ENST00000683753.1:n.4223C>G
ENST00000684038.1:c.*1597C>G	ENSP00000507141.1:n.*1597C>G
ENST00000684235.1:c.5177C>G	ENSP00000508295.1:p.Ala1726Gly
ENST00000684676.1:c.5177C>G	ENSP00000506948.1:p.Ala1726Gly
ENST00000261866.12:c.5177C>G MANE Select	ENSP00000261866.7:p.Ala1726Gly
ENST00000261866.11:c.5177C>G	ENSP00000261866.7:p.Ala1726Gly
ENST00000427534.6:c.5177C>G	ENSP00000396110.2:p.Ala1726Gly
ENST00000535302.6:c.5177C>G	ENSP00000445278.2:p.Ala1726Gly
ENST00000558319.5:c.5177C>G	ENSP00000453599.1:p.Ala1726Gly
ENST00000558790.5:n.614C>G
ENST00000559511.5:c.25C>G
NM_001160227.1:c.5177C>G	NP_001153699.1:p.Ala1726Gly
NM_025137.3:c.5177C>G	NP_079413.3:p.Ala1726Gly
XM_005254695.3:c.4919C>G	XP_005254752.1:p.Ala1640Gly
XM_006720700.1:c.5122-89C>G	XP_006720763.1:n.5122-89C>G
XM_017022634.1:c.5177C>G	XP_016878123.1:p.Ala1726Gly
XM_017022636.1:c.2054C>G	XP_016878125.1:p.Ala685Gly
XR_931917.2:n.5231C>G
NM_025137.4:c.5177C>G MANE Select	NP_079413.3:p.Ala1726Gly
NM_001160227.2:c.5177C>G	NP_001153699.1:p.Ala1726Gly