Canonical Allele Identifier: CA7534136

Gene: SPG11

Linked Data

• ClinVar Variation Id: 466556
• ClinVar RCV Id: RCV000526227 ; RCV002367857 ; RCV002467882 ; RCV002467883 ; RCV003227785
• dbSNP Id: rs141035224
• ExAC: 15:44862776 C / T
• gnomAD v2: 15-44862776-C-T
• gnomAD v3: 15-44570578-C-T
• gnomAD v4: 15-44570578-C-T
• MyVariant Identifiers: chr15:g.44862776C>T (hg19) ; chr15:g.44570578C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570578C>T , CM000677.2:g.44570578C>T	GRCh38
NC_000015.9:g.44862776C>T , CM000677.1:g.44862776C>T	GRCh37
NC_000015.8:g.42650068C>T	NCBI36
NG_008885.1:g.98101G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.223G>A	ENSP00000453314.2:p.Ala75Thr
ENST00000559511.6:c.5947G>A	ENSP00000453246.2:p.Ala1983Thr
ENST00000682065.1:c.6280G>A	ENSP00000507025.1:p.Ala2094Thr
ENST00000682460.1:c.*2681G>A	ENSP00000508334.1:n.*2681G>A
ENST00000682495.1:c.*2916G>A	ENSP00000507166.1:n.*2916G>A
ENST00000682669.1:c.6223G>A	ENSP00000507782.1:p.Ala2075Thr
ENST00000683186.1:c.*3187G>A	ENSP00000507268.1:n.*3187G>A
ENST00000683496.1:c.*66G>A	ENSP00000506968.1:n.*66G>A
ENST00000683734.1:c.*374G>A	ENSP00000508319.1:n.*374G>A
ENST00000683753.1:n.5470G>A
ENST00000684038.1:c.*2844G>A	ENSP00000507141.1:n.*2844G>A
ENST00000684235.1:c.6424G>A	ENSP00000508295.1:p.Ala2142Thr
ENST00000261866.12:c.6424G>A MANE Select	ENSP00000261866.7:p.Ala2142Thr
ENST00000261866.11:c.6424G>A	ENSP00000261866.7:p.Ala2142Thr
ENST00000427534.6:c.6424G>A	ENSP00000396110.2:p.Ala2142Thr
ENST00000535302.6:c.6085G>A	ENSP00000445278.2:p.Ala2029Thr
ENST00000558138.1:c.223G>A	ENSP00000453314.1:p.Ala75Thr
ENST00000559347.1:n.253G>A
ENST00000559511.5:c.795G>A
ENST00000559933.1:n.493G>A
ENST00000561268.5:n.275+2105G>A
NM_001160227.1:c.6085G>A	NP_001153699.1:p.Ala2029Thr
NM_025137.3:c.6424G>A	NP_079413.3:p.Ala2142Thr
XM_005254695.3:c.6166G>A	XP_005254752.1:p.Ala2056Thr
XM_006720700.1:c.6280G>A	XP_006720763.1:p.Ala2094Thr
XM_017022634.1:c.6424G>A	XP_016878123.1:p.Ala2142Thr
XM_017022636.1:c.3301G>A	XP_016878125.1:p.Ala1101Thr
NM_025137.4:c.6424G>A MANE Select	NP_079413.3:p.Ala2142Thr
NM_001160227.2:c.6085G>A	NP_001153699.1:p.Ala2029Thr