Canonical Allele Identifier: CA336254

Gene: SPG11

Linked Data

• ClinVar Variation Id: 216009
• ClinVar RCV Id: RCV000196229
• dbSNP Id: rs762984907
• ExAC: 15:44856781 A / T
• gnomAD v2: 15-44856781-A-T
• gnomAD v3: 15-44564583-A-T
• gnomAD v4: 15-44564583-A-T
• MyVariant Identifiers: chr15:g.44856781A>T (hg19) ; chr15:g.44564583A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44564583A>T , CM000677.2:g.44564583A>T	GRCh38
NC_000015.9:g.44856781A>T , CM000677.1:g.44856781A>T	GRCh37
NC_000015.8:g.42644073A>T	NCBI36
NG_008885.1:g.104096T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.806T>A	ENSP00000453314.2:p.Leu269Ter
ENST00000559511.6:c.6638T>A	ENSP00000453246.2:p.Leu2213Ter
ENST00000682065.1:c.6971T>A	ENSP00000507025.1:p.Leu2324Ter
ENST00000682460.1:c.*3372T>A	ENSP00000508334.1:n.*3372T>A
ENST00000682495.1:c.*3607T>A	ENSP00000507166.1:n.*3607T>A
ENST00000682669.1:c.6914T>A	ENSP00000507782.1:p.Leu2305Ter
ENST00000683186.1:c.*3878T>A	ENSP00000507268.1:n.*3878T>A
ENST00000683496.1:c.*757T>A	ENSP00000506968.1:n.*757T>A
ENST00000683734.1:c.*1065T>A	ENSP00000508319.1:n.*1065T>A
ENST00000683753.1:n.6161T>A
ENST00000684038.1:c.*3535T>A	ENSP00000507141.1:n.*3535T>A
ENST00000684235.1:c.7115T>A	ENSP00000508295.1:p.Leu2372Ter
ENST00000261866.12:c.7115T>A MANE Select	ENSP00000261866.7:p.Leu2372Ter
ENST00000261866.11:c.7115T>A	ENSP00000261866.7:p.Leu2372Ter
ENST00000427534.6:c.6755-1282T>A	ENSP00000396110.2:n.6755-1282T>A
ENST00000535302.6:c.6776T>A	ENSP00000445278.2:p.Leu2259Ter
ENST00000559511.5:c.1486T>A
ENST00000560299.1:n.407T>A
NM_001160227.1:c.6776T>A	NP_001153699.1:p.Leu2259Ter
NM_025137.3:c.7115T>A	NP_079413.3:p.Leu2372Ter
XM_005254695.3:c.6857T>A	XP_005254752.1:p.Leu2286Ter
XM_006720700.1:c.6971T>A	XP_006720763.1:p.Leu2324Ter
XM_017022634.1:c.7007T>A	XP_016878123.1:p.Leu2336Ter
XM_017022636.1:c.3992T>A	XP_016878125.1:p.Leu1331Ter
NM_025137.4:c.7115T>A MANE Select	NP_079413.3:p.Leu2372Ter
NM_001160227.2:c.6776T>A	NP_001153699.1:p.Leu2259Ter