Canonical Allele Identifier: CA7534300

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574939T>C , CM000677.2:g.44574939T>C	GRCh38
NC_000015.9:g.44867137T>C , CM000677.1:g.44867137T>C	GRCh37
NC_000015.8:g.42654429T>C	NCBI36
NG_008885.1:g.93740A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.5969A>G MANE Select	NP_079413.3:p.Tyr1990Cys
ENST00000261866.12:c.5969A>G MANE Select	ENSP00000261866.7:p.Tyr1990Cys
NM_001160227.1:c.5867-2119A>G	NP_001153699.1:n.5867-2119A>G
NM_001160227.2:c.5867-2119A>G	NP_001153699.1:n.5867-2119A>G
NM_025137.3:c.5969A>G	NP_079413.3:p.Tyr1990Cys
ENST00000261866.11:c.5969A>G	ENSP00000261866.7:p.Tyr1990Cys
ENST00000427534.6:c.5969A>G	ENSP00000396110.2:p.Tyr1990Cys
ENST00000535302.6:c.5867-2119A>G	ENSP00000445278.2:n.5867-2119A>G
ENST00000558080.1:n.334A>G
ENST00000558319.5:c.5969A>G	ENSP00000453599.1:p.Tyr1990Cys
ENST00000559511.5:c.715-4281A>G
ENST00000559511.6:c.5867-4281A>G	ENSP00000453246.2:n.5867-4281A>G
ENST00000559822.1:c.512A>G
ENST00000561391.2:n.2197A>G
ENST00000682065.1:c.5825A>G	ENSP00000507025.1:p.Tyr1942Cys
ENST00000682460.1:c.*2226A>G	ENSP00000508334.1:n.*2226A>G
ENST00000682495.1:c.*2461A>G	ENSP00000507166.1:n.*2461A>G
ENST00000682669.1:c.5768A>G	ENSP00000507782.1:p.Tyr1923Cys
ENST00000683186.1:c.*2732A>G	ENSP00000507268.1:n.*2732A>G
ENST00000683496.1:c.5969A>G	ENSP00000506968.1:p.Tyr1990Cys
ENST00000683734.1:c.5867-1194A>G	ENSP00000508319.1:n.5867-1194A>G
ENST00000683753.1:n.5015A>G
ENST00000684038.1:c.*2389A>G	ENSP00000507141.1:n.*2389A>G
ENST00000684235.1:c.5969A>G	ENSP00000508295.1:p.Tyr1990Cys
ENST00000684676.1:c.*118A>G	ENSP00000506948.1:n.*118A>G
XM_005254695.3:c.5711A>G	XP_005254752.1:p.Tyr1904Cys
XM_006720700.1:c.5825A>G	XP_006720763.1:p.Tyr1942Cys
XM_017022634.1:c.5969A>G	XP_016878123.1:p.Tyr1990Cys
XM_017022636.1:c.2846A>G	XP_016878125.1:p.Tyr949Cys