Canonical Allele Identifier: CA16607073

Gene: SPG11

Linked Data

• ClinVar Variation Id: 378638
• ClinVar RCV Id: RCV000441784 ; RCV000528304 ; RCV001095472
• dbSNP Id: rs778305085
• gnomAD v4: 15-44563298-A-C
• MyVariant Identifiers: chr15:g.44855496A>C (hg19) ; chr15:g.44563298A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44563298A>C , CM000677.2:g.44563298A>C	GRCh38
NC_000015.9:g.44855496A>C , CM000677.1:g.44855496A>C	GRCh37
NC_000015.8:g.42642788A>C	NCBI36
NG_008885.1:g.105381T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.846T>G	ENSP00000453314.2:p.Tyr282Ter
ENST00000559511.6:c.6678T>G	ENSP00000453246.2:p.Tyr2226Ter
ENST00000682065.1:c.7011T>G	ENSP00000507025.1:p.Tyr2337Ter
ENST00000682460.1:c.*3412T>G	ENSP00000508334.1:n.*3412T>G
ENST00000682495.1:c.*3647T>G	ENSP00000507166.1:n.*3647T>G
ENST00000682669.1:c.6954T>G	ENSP00000507782.1:p.Tyr2318Ter
ENST00000683186.1:c.*3918T>G	ENSP00000507268.1:n.*3918T>G
ENST00000683496.1:c.*797T>G	ENSP00000506968.1:n.*797T>G
ENST00000683734.1:c.*1105T>G	ENSP00000508319.1:n.*1105T>G
ENST00000683753.1:n.6201T>G
ENST00000684038.1:c.*3575T>G	ENSP00000507141.1:n.*3575T>G
ENST00000684235.1:c.7151+1249T>G	ENSP00000508295.1:n.7151+1249T>G
ENST00000261866.12:c.7155T>G MANE Select	ENSP00000261866.7:p.Tyr2385Ter
ENST00000261866.11:c.7155T>G	ENSP00000261866.7:p.Tyr2385Ter
ENST00000427534.6:c.6758T>G	ENSP00000396110.2:p.Ile2253Arg
ENST00000535302.6:c.6816T>G	ENSP00000445278.2:p.Tyr2272Ter
ENST00000559511.5:c.1526T>G
NM_001160227.1:c.6816T>G	NP_001153699.1:p.Tyr2272Ter
NM_025137.3:c.7155T>G	NP_079413.3:p.Tyr2385Ter
XM_005254695.3:c.6897T>G	XP_005254752.1:p.Tyr2299Ter
XM_006720700.1:c.7011T>G	XP_006720763.1:p.Tyr2337Ter
XM_017022634.1:c.7047T>G	XP_016878123.1:p.Tyr2349Ter
XM_017022636.1:c.4032T>G	XP_016878125.1:p.Tyr1344Ter
NM_025137.4:c.7155T>G MANE Select	NP_079413.3:p.Tyr2385Ter
NM_001160227.2:c.6816T>G	NP_001153699.1:p.Tyr2272Ter