Canonical Allele Identifier: CA490329604

Gene: SPG11

Linked Data

• ClinVar Variation Id: 2911447
• ClinVar RCV Id: RCV003601332
• MyVariant Identifiers: chr15:g.44876223T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584025T>C , CM000677.2:g.44584025T>C	GRCh38
NC_000015.9:g.44876223T>C , CM000677.1:g.44876223T>C	GRCh37
NC_000015.8:g.42663515T>C	NCBI36
NG_008885.1:g.84654A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5655A>G	ENSP00000453246.2:p.Leu1885=
ENST00000561391.2:n.1883A>G
ENST00000682065.1:c.5511A>G	ENSP00000507025.1:p.Leu1837=
ENST00000682460.1:c.*1912A>G	ENSP00000508334.1:n.*1912A>G
ENST00000682495.1:c.*2147A>G	ENSP00000507166.1:n.*2147A>G
ENST00000682669.1:c.5454A>G	ENSP00000507782.1:p.Leu1818=
ENST00000683186.1:c.*2418A>G	ENSP00000507268.1:n.*2418A>G
ENST00000683496.1:c.5655A>G	ENSP00000506968.1:p.Leu1885=
ENST00000683734.1:c.5655A>G	ENSP00000508319.1:p.Leu1885=
ENST00000683753.1:n.4701A>G
ENST00000684038.1:c.*2075A>G	ENSP00000507141.1:n.*2075A>G
ENST00000684235.1:c.5655A>G	ENSP00000508295.1:p.Leu1885=
ENST00000684676.1:c.5516-90A>G	ENSP00000506948.1:n.5516-90A>G
ENST00000261866.12:c.5655A>G MANE Select	ENSP00000261866.7:p.Leu1885=
ENST00000261866.11:c.5655A>G	ENSP00000261866.7:p.Leu1885=
ENST00000427534.6:c.5655A>G	ENSP00000396110.2:p.Leu1885=
ENST00000535302.6:c.5655A>G	ENSP00000445278.2:p.Leu1885=
ENST00000558319.5:c.5655A>G	ENSP00000453599.1:p.Leu1885=
ENST00000559511.5:c.503A>G
ENST00000559822.1:c.288-90A>G
NM_001160227.1:c.5655A>G	NP_001153699.1:p.Leu1885=
NM_025137.3:c.5655A>G	NP_079413.3:p.Leu1885=
XM_005254695.3:c.5397A>G	XP_005254752.1:p.Leu1799=
XM_006720700.1:c.5511A>G	XP_006720763.1:p.Leu1837=
XM_017022634.1:c.5655A>G	XP_016878123.1:p.Leu1885=
XM_017022636.1:c.2532A>G	XP_016878125.1:p.Leu844=
NM_025137.4:c.5655A>G MANE Select	NP_079413.3:p.Leu1885=
NM_001160227.2:c.5655A>G	NP_001153699.1:p.Leu1885=