Canonical Allele Identifier: CA392216243

Gene: SPG11

Linked Data

• ClinVar Variation Id: 581478
• ClinVar RCV Id: RCV000705312 ; RCV002360824
• dbSNP Id: rs1437823754
• gnomAD v2: 15-44862730-C-T
• gnomAD v3: 15-44570532-C-T
• gnomAD v4: 15-44570532-C-T
• MyVariant Identifiers: chr15:g.44862730C>T (hg19) ; chr15:g.44570532C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570532C>T , CM000677.2:g.44570532C>T	GRCh38
NC_000015.9:g.44862730C>T , CM000677.1:g.44862730C>T	GRCh37
NC_000015.8:g.42650022C>T	NCBI36
NG_008885.1:g.98147G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.269G>A	ENSP00000453314.2:p.Gly90Glu
ENST00000559511.6:c.5993G>A	ENSP00000453246.2:p.Gly1998Glu
ENST00000682065.1:c.6326G>A	ENSP00000507025.1:p.Gly2109Glu
ENST00000682460.1:c.*2727G>A	ENSP00000508334.1:n.*2727G>A
ENST00000682495.1:c.*2962G>A	ENSP00000507166.1:n.*2962G>A
ENST00000682669.1:c.6269G>A	ENSP00000507782.1:p.Gly2090Glu
ENST00000683186.1:c.*3233G>A	ENSP00000507268.1:n.*3233G>A
ENST00000683496.1:c.*112G>A	ENSP00000506968.1:n.*112G>A
ENST00000683734.1:c.*420G>A	ENSP00000508319.1:n.*420G>A
ENST00000683753.1:n.5516G>A
ENST00000684038.1:c.*2890G>A	ENSP00000507141.1:n.*2890G>A
ENST00000684235.1:c.6470G>A	ENSP00000508295.1:p.Gly2157Glu
ENST00000261866.12:c.6470G>A MANE Select	ENSP00000261866.7:p.Gly2157Glu
ENST00000261866.11:c.6470G>A	ENSP00000261866.7:p.Gly2157Glu
ENST00000427534.6:c.6470G>A	ENSP00000396110.2:p.Gly2157Glu
ENST00000535302.6:c.6131G>A	ENSP00000445278.2:p.Gly2044Glu
ENST00000558138.1:c.269G>A	ENSP00000453314.1:p.Gly90Glu
ENST00000559347.1:n.299G>A
ENST00000559511.5:c.841G>A
ENST00000561268.5:n.275+2151G>A
NM_001160227.1:c.6131G>A	NP_001153699.1:p.Gly2044Glu
NM_025137.3:c.6470G>A	NP_079413.3:p.Gly2157Glu
XM_005254695.3:c.6212G>A	XP_005254752.1:p.Gly2071Glu
XM_006720700.1:c.6326G>A	XP_006720763.1:p.Gly2109Glu
XM_017022634.1:c.6470G>A	XP_016878123.1:p.Gly2157Glu
XM_017022636.1:c.3347G>A	XP_016878125.1:p.Gly1116Glu
NM_025137.4:c.6470G>A MANE Select	NP_079413.3:p.Gly2157Glu
NM_001160227.2:c.6131G>A	NP_001153699.1:p.Gly2044Glu