Canonical Allele Identifier: CA392218121

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44865760A>C (hg19) ; chr15:g.44573562A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573562A>C , CM000677.2:g.44573562A>C	GRCh38
NC_000015.9:g.44865760A>C , CM000677.1:g.44865760A>C	GRCh37
NC_000015.8:g.42653052A>C	NCBI36
NG_008885.1:g.95117T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-2904T>G	ENSP00000453246.2:n.5867-2904T>G
ENST00000561391.2:n.2418T>G
ENST00000682065.1:c.6046T>G	ENSP00000507025.1:p.Ser2016Ala
ENST00000682460.1:c.*2447T>G	ENSP00000508334.1:n.*2447T>G
ENST00000682495.1:c.*2682T>G	ENSP00000507166.1:n.*2682T>G
ENST00000682669.1:c.5989T>G	ENSP00000507782.1:p.Ser1997Ala
ENST00000683186.1:c.*2953T>G	ENSP00000507268.1:n.*2953T>G
ENST00000683496.1:c.6006+1340T>G	ENSP00000506968.1:n.6006+1340T>G
ENST00000683734.1:c.*140T>G	ENSP00000508319.1:n.*140T>G
ENST00000683753.1:n.5236T>G
ENST00000684038.1:c.*2610T>G	ENSP00000507141.1:n.*2610T>G
ENST00000684235.1:c.6190T>G	ENSP00000508295.1:p.Ser2064Ala
ENST00000684676.1:c.*339T>G	ENSP00000506948.1:n.*339T>G
ENST00000261866.12:c.6190T>G MANE Select	ENSP00000261866.7:p.Ser2064Ala
ENST00000261866.11:c.6190T>G	ENSP00000261866.7:p.Ser2064Ala
ENST00000427534.6:c.6190T>G	ENSP00000396110.2:p.Ser2064Ala
ENST00000535302.6:c.5867-742T>G	ENSP00000445278.2:n.5867-742T>G
ENST00000558080.1:n.555T>G
ENST00000558319.5:c.6190T>G	ENSP00000453599.1:p.Ser2064Ala
ENST00000559511.5:c.715-2904T>G
ENST00000559933.1:n.259T>G
ENST00000561268.5:n.122T>G
NM_001160227.1:c.5867-742T>G	NP_001153699.1:n.5867-742T>G
NM_025137.3:c.6190T>G	NP_079413.3:p.Ser2064Ala
XM_005254695.3:c.5932T>G	XP_005254752.1:p.Ser1978Ala
XM_006720700.1:c.6046T>G	XP_006720763.1:p.Ser2016Ala
XM_017022634.1:c.6190T>G	XP_016878123.1:p.Ser2064Ala
XM_017022636.1:c.3067T>G	XP_016878125.1:p.Ser1023Ala
NM_025137.4:c.6190T>G MANE Select	NP_079413.3:p.Ser2064Ala
NM_001160227.2:c.5867-742T>G	NP_001153699.1:n.5867-742T>G