Canonical Allele Identifier: CA392216250

Gene: SPG11

Linked Data

• ClinVar Variation Id: 1717261
• ClinVar RCV Id: RCV002297475
• MyVariant Identifiers: chr15:g.44862733T>C (hg19) ; chr15:g.44570535T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570535T>C , CM000677.2:g.44570535T>C	GRCh38
NC_000015.9:g.44862733T>C , CM000677.1:g.44862733T>C	GRCh37
NC_000015.8:g.42650025T>C	NCBI36
NG_008885.1:g.98144A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.266A>G	ENSP00000453314.2:p.Tyr89Cys
ENST00000559511.6:c.5990A>G	ENSP00000453246.2:p.Tyr1997Cys
ENST00000682065.1:c.6323A>G	ENSP00000507025.1:p.Tyr2108Cys
ENST00000682460.1:c.*2724A>G	ENSP00000508334.1:n.*2724A>G
ENST00000682495.1:c.*2959A>G	ENSP00000507166.1:n.*2959A>G
ENST00000682669.1:c.6266A>G	ENSP00000507782.1:p.Tyr2089Cys
ENST00000683186.1:c.*3230A>G	ENSP00000507268.1:n.*3230A>G
ENST00000683496.1:c.*109A>G	ENSP00000506968.1:n.*109A>G
ENST00000683734.1:c.*417A>G	ENSP00000508319.1:n.*417A>G
ENST00000683753.1:n.5513A>G
ENST00000684038.1:c.*2887A>G	ENSP00000507141.1:n.*2887A>G
ENST00000684235.1:c.6467A>G	ENSP00000508295.1:p.Tyr2156Cys
ENST00000261866.12:c.6467A>G MANE Select	ENSP00000261866.7:p.Tyr2156Cys
ENST00000261866.11:c.6467A>G	ENSP00000261866.7:p.Tyr2156Cys
ENST00000427534.6:c.6467A>G	ENSP00000396110.2:p.Tyr2156Cys
ENST00000535302.6:c.6128A>G	ENSP00000445278.2:p.Tyr2043Cys
ENST00000558138.1:c.266A>G	ENSP00000453314.1:p.Tyr89Cys
ENST00000559347.1:n.296A>G
ENST00000559511.5:c.838A>G
ENST00000561268.5:n.275+2148A>G
NM_001160227.1:c.6128A>G	NP_001153699.1:p.Tyr2043Cys
NM_025137.3:c.6467A>G	NP_079413.3:p.Tyr2156Cys
XM_005254695.3:c.6209A>G	XP_005254752.1:p.Tyr2070Cys
XM_006720700.1:c.6323A>G	XP_006720763.1:p.Tyr2108Cys
XM_017022634.1:c.6467A>G	XP_016878123.1:p.Tyr2156Cys
XM_017022636.1:c.3344A>G	XP_016878125.1:p.Tyr1115Cys
NM_025137.4:c.6467A>G MANE Select	NP_079413.3:p.Tyr2156Cys
NM_001160227.2:c.6128A>G	NP_001153699.1:p.Tyr2043Cys