Canonical Allele Identifier: CA392216289

Gene: SPG11

Linked Data

• ClinVar Variation Id: 959368
• ClinVar RCV Id: RCV001232708
• dbSNP Id: rs1403957064
• gnomAD v2: 15-44862752-G-C
• gnomAD v4: 15-44570554-G-C
• MyVariant Identifiers: chr15:g.44862752G>C (hg19) ; chr15:g.44570554G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570554G>C , CM000677.2:g.44570554G>C	GRCh38
NC_000015.9:g.44862752G>C , CM000677.1:g.44862752G>C	GRCh37
NC_000015.8:g.42650044G>C	NCBI36
NG_008885.1:g.98125C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.247C>G	ENSP00000453314.2:p.Leu83Val
ENST00000559511.6:c.5971C>G	ENSP00000453246.2:p.Leu1991Val
ENST00000682065.1:c.6304C>G	ENSP00000507025.1:p.Leu2102Val
ENST00000682460.1:c.*2705C>G	ENSP00000508334.1:n.*2705C>G
ENST00000682495.1:c.*2940C>G	ENSP00000507166.1:n.*2940C>G
ENST00000682669.1:c.6247C>G	ENSP00000507782.1:p.Leu2083Val
ENST00000683186.1:c.*3211C>G	ENSP00000507268.1:n.*3211C>G
ENST00000683496.1:c.*90C>G	ENSP00000506968.1:n.*90C>G
ENST00000683734.1:c.*398C>G	ENSP00000508319.1:n.*398C>G
ENST00000683753.1:n.5494C>G
ENST00000684038.1:c.*2868C>G	ENSP00000507141.1:n.*2868C>G
ENST00000684235.1:c.6448C>G	ENSP00000508295.1:p.Leu2150Val
ENST00000261866.12:c.6448C>G MANE Select	ENSP00000261866.7:p.Leu2150Val
ENST00000261866.11:c.6448C>G	ENSP00000261866.7:p.Leu2150Val
ENST00000427534.6:c.6448C>G	ENSP00000396110.2:p.Leu2150Val
ENST00000535302.6:c.6109C>G	ENSP00000445278.2:p.Leu2037Val
ENST00000558138.1:c.247C>G	ENSP00000453314.1:p.Leu83Val
ENST00000559347.1:n.277C>G
ENST00000559511.5:c.819C>G
ENST00000559933.1:n.517C>G
ENST00000561268.5:n.275+2129C>G
NM_001160227.1:c.6109C>G	NP_001153699.1:p.Leu2037Val
NM_025137.3:c.6448C>G	NP_079413.3:p.Leu2150Val
XM_005254695.3:c.6190C>G	XP_005254752.1:p.Leu2064Val
XM_006720700.1:c.6304C>G	XP_006720763.1:p.Leu2102Val
XM_017022634.1:c.6448C>G	XP_016878123.1:p.Leu2150Val
XM_017022636.1:c.3325C>G	XP_016878125.1:p.Leu1109Val
NM_025137.4:c.6448C>G MANE Select	NP_079413.3:p.Leu2150Val
NM_001160227.2:c.6109C>G	NP_001153699.1:p.Leu2037Val