Canonical Allele Identifier: CA392218323

Gene: SPG11

Linked Data

• gnomAD v4: 15-44573662-G-C
• MyVariant Identifiers: chr15:g.44865860G>C (hg19) ; chr15:g.44573662G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573662G>C , CM000677.2:g.44573662G>C	GRCh38
NC_000015.9:g.44865860G>C , CM000677.1:g.44865860G>C	GRCh37
NC_000015.8:g.42653152G>C	NCBI36
NG_008885.1:g.95017C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-3004C>G	ENSP00000453246.2:n.5867-3004C>G
ENST00000561391.2:n.2318C>G
ENST00000682065.1:c.5946C>G	ENSP00000507025.1:p.Asp1982Glu
ENST00000682460.1:c.*2347C>G	ENSP00000508334.1:n.*2347C>G
ENST00000682495.1:c.*2582C>G	ENSP00000507166.1:n.*2582C>G
ENST00000682669.1:c.5889C>G	ENSP00000507782.1:p.Asp1963Glu
ENST00000683186.1:c.*2853C>G	ENSP00000507268.1:n.*2853C>G
ENST00000683496.1:c.6006+1240C>G	ENSP00000506968.1:n.6006+1240C>G
ENST00000683734.1:c.*40C>G	ENSP00000508319.1:n.*40C>G
ENST00000683753.1:n.5136C>G
ENST00000684038.1:c.*2510C>G	ENSP00000507141.1:n.*2510C>G
ENST00000684235.1:c.6090C>G	ENSP00000508295.1:p.Asp2030Glu
ENST00000684676.1:c.*239C>G	ENSP00000506948.1:n.*239C>G
ENST00000261866.12:c.6090C>G MANE Select	ENSP00000261866.7:p.Asp2030Glu
ENST00000261866.11:c.6090C>G	ENSP00000261866.7:p.Asp2030Glu
ENST00000427534.6:c.6090C>G	ENSP00000396110.2:p.Asp2030Glu
ENST00000535302.6:c.5867-842C>G	ENSP00000445278.2:n.5867-842C>G
ENST00000558080.1:n.455C>G
ENST00000558319.5:c.6090C>G	ENSP00000453599.1:p.Asp2030Glu
ENST00000559511.5:c.715-3004C>G
ENST00000559933.1:n.159C>G
ENST00000561268.5:n.22C>G
NM_001160227.1:c.5867-842C>G	NP_001153699.1:n.5867-842C>G
NM_025137.3:c.6090C>G	NP_079413.3:p.Asp2030Glu
XM_005254695.3:c.5832C>G	XP_005254752.1:p.Asp1944Glu
XM_006720700.1:c.5946C>G	XP_006720763.1:p.Asp1982Glu
XM_017022634.1:c.6090C>G	XP_016878123.1:p.Asp2030Glu
XM_017022636.1:c.2967C>G	XP_016878125.1:p.Asp989Glu
NM_025137.4:c.6090C>G MANE Select	NP_079413.3:p.Asp2030Glu
NM_001160227.2:c.5867-842C>G	NP_001153699.1:n.5867-842C>G