Canonical Allele Identifier: CA7534137

Gene: SPG11

Linked Data

• ClinVar Variation Id: 534854
• ClinVar RCV Id: RCV000642551 ; RCV001507875 ; RCV002467954 ; RCV002467955 ; RCV003243229
• dbSNP Id: rs200283964
• ExAC: 15:44862790 C / T
• gnomAD v2: 15-44862790-C-T
• gnomAD v3: 15-44570592-C-T
• gnomAD v4: 15-44570592-C-T
• MyVariant Identifiers: chr15:g.44862790C>T (hg19) ; chr15:g.44570592C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570592C>T , CM000677.2:g.44570592C>T	GRCh38
NC_000015.9:g.44862790C>T , CM000677.1:g.44862790C>T	GRCh37
NC_000015.8:g.42650082C>T	NCBI36
NG_008885.1:g.98087G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.209G>A	ENSP00000453314.2:p.Arg70Gln
ENST00000559511.6:c.5933G>A	ENSP00000453246.2:p.Arg1978Gln
ENST00000682065.1:c.6266G>A	ENSP00000507025.1:p.Arg2089Gln
ENST00000682460.1:c.*2667G>A	ENSP00000508334.1:n.*2667G>A
ENST00000682495.1:c.*2902G>A	ENSP00000507166.1:n.*2902G>A
ENST00000682669.1:c.6209G>A	ENSP00000507782.1:p.Arg2070Gln
ENST00000683186.1:c.*3173G>A	ENSP00000507268.1:n.*3173G>A
ENST00000683496.1:c.*52G>A	ENSP00000506968.1:n.*52G>A
ENST00000683734.1:c.*360G>A	ENSP00000508319.1:n.*360G>A
ENST00000683753.1:n.5456G>A
ENST00000684038.1:c.*2830G>A	ENSP00000507141.1:n.*2830G>A
ENST00000684235.1:c.6410G>A	ENSP00000508295.1:p.Arg2137Gln
ENST00000261866.12:c.6410G>A MANE Select	ENSP00000261866.7:p.Arg2137Gln
ENST00000261866.11:c.6410G>A	ENSP00000261866.7:p.Arg2137Gln
ENST00000427534.6:c.6410G>A	ENSP00000396110.2:p.Arg2137Gln
ENST00000535302.6:c.6071G>A	ENSP00000445278.2:p.Arg2024Gln
ENST00000558138.1:c.209G>A	ENSP00000453314.1:p.Arg70Gln
ENST00000559347.1:n.239G>A
ENST00000559511.5:c.781G>A
ENST00000559933.1:n.479G>A
ENST00000561268.5:n.275+2091G>A
NM_001160227.1:c.6071G>A	NP_001153699.1:p.Arg2024Gln
NM_025137.3:c.6410G>A	NP_079413.3:p.Arg2137Gln
XM_005254695.3:c.6152G>A	XP_005254752.1:p.Arg2051Gln
XM_006720700.1:c.6266G>A	XP_006720763.1:p.Arg2089Gln
XM_017022634.1:c.6410G>A	XP_016878123.1:p.Arg2137Gln
XM_017022636.1:c.3287G>A	XP_016878125.1:p.Arg1096Gln
NM_025137.4:c.6410G>A MANE Select	NP_079413.3:p.Arg2137Gln
NM_001160227.2:c.6071G>A	NP_001153699.1:p.Arg2024Gln