Canonical Allele Identifier: CA7534388

Gene: SPG11

Linked Data

• ClinVar Variation Id: 1358368
• ClinVar RCV Id: RCV001894206 ; RCV002343899
• dbSNP Id: rs138009927
• ExAC: 15:44876314 A / G
• gnomAD v2: 15-44876314-A-G
• gnomAD v3: 15-44584116-A-G
• gnomAD v4: 15-44584116-A-G
• MyVariant Identifiers: chr15:g.44876314A>G (hg19) ; chr15:g.44584116A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584116A>G , CM000677.2:g.44584116A>G	GRCh38
NC_000015.9:g.44876314A>G , CM000677.1:g.44876314A>G	GRCh37
NC_000015.8:g.42663606A>G	NCBI36
NG_008885.1:g.84563T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5564T>C	ENSP00000453246.2:p.Leu1855Ser
ENST00000561391.2:n.1792T>C
ENST00000682065.1:c.5420T>C	ENSP00000507025.1:p.Leu1807Ser
ENST00000682460.1:c.*1821T>C	ENSP00000508334.1:n.*1821T>C
ENST00000682495.1:c.*2056T>C	ENSP00000507166.1:n.*2056T>C
ENST00000682669.1:c.5363T>C	ENSP00000507782.1:p.Leu1788Ser
ENST00000683186.1:c.*2327T>C	ENSP00000507268.1:n.*2327T>C
ENST00000683496.1:c.5564T>C	ENSP00000506968.1:p.Leu1855Ser
ENST00000683734.1:c.5564T>C	ENSP00000508319.1:p.Leu1855Ser
ENST00000683753.1:n.4610T>C
ENST00000684038.1:c.*1984T>C	ENSP00000507141.1:n.*1984T>C
ENST00000684235.1:c.5564T>C	ENSP00000508295.1:p.Leu1855Ser
ENST00000684676.1:c.5515+49T>C	ENSP00000506948.1:n.5515+49T>C
ENST00000261866.12:c.5564T>C MANE Select	ENSP00000261866.7:p.Leu1855Ser
ENST00000261866.11:c.5564T>C	ENSP00000261866.7:p.Leu1855Ser
ENST00000427534.6:c.5564T>C	ENSP00000396110.2:p.Leu1855Ser
ENST00000535302.6:c.5564T>C	ENSP00000445278.2:p.Leu1855Ser
ENST00000558319.5:c.5564T>C	ENSP00000453599.1:p.Leu1855Ser
ENST00000559511.5:c.412T>C
ENST00000559822.1:c.287+49T>C
NM_001160227.1:c.5564T>C	NP_001153699.1:p.Leu1855Ser
NM_025137.3:c.5564T>C	NP_079413.3:p.Leu1855Ser
XM_005254695.3:c.5306T>C	XP_005254752.1:p.Leu1769Ser
XM_006720700.1:c.5420T>C	XP_006720763.1:p.Leu1807Ser
XM_017022634.1:c.5564T>C	XP_016878123.1:p.Leu1855Ser
XM_017022636.1:c.2441T>C	XP_016878125.1:p.Leu814Ser
NM_025137.4:c.5564T>C MANE Select	NP_079413.3:p.Leu1855Ser
NM_001160227.2:c.5564T>C	NP_001153699.1:p.Leu1855Ser