Canonical Allele Identifier: CA392219102

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44867215A>C (hg19) ; chr15:g.44575017A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44575017A>C , CM000677.2:g.44575017A>C	GRCh38
NC_000015.9:g.44867215A>C , CM000677.1:g.44867215A>C	GRCh37
NC_000015.8:g.42654507A>C	NCBI36
NG_008885.1:g.93662T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4359T>G	ENSP00000453246.2:n.5867-4359T>G
ENST00000561391.2:n.2119T>G
ENST00000682065.1:c.5747T>G	ENSP00000507025.1:p.Phe1916Cys
ENST00000682460.1:c.*2148T>G	ENSP00000508334.1:n.*2148T>G
ENST00000682495.1:c.*2383T>G	ENSP00000507166.1:n.*2383T>G
ENST00000682669.1:c.5690T>G	ENSP00000507782.1:p.Phe1897Cys
ENST00000683186.1:c.*2654T>G	ENSP00000507268.1:n.*2654T>G
ENST00000683496.1:c.5891T>G	ENSP00000506968.1:p.Phe1964Cys
ENST00000683734.1:c.5867-1272T>G	ENSP00000508319.1:n.5867-1272T>G
ENST00000683753.1:n.4937T>G
ENST00000684038.1:c.*2311T>G	ENSP00000507141.1:n.*2311T>G
ENST00000684235.1:c.5891T>G	ENSP00000508295.1:p.Phe1964Cys
ENST00000684676.1:c.*40T>G	ENSP00000506948.1:n.*40T>G
ENST00000261866.12:c.5891T>G MANE Select	ENSP00000261866.7:p.Phe1964Cys
ENST00000261866.11:c.5891T>G	ENSP00000261866.7:p.Phe1964Cys
ENST00000427534.6:c.5891T>G	ENSP00000396110.2:p.Phe1964Cys
ENST00000535302.6:c.5867-2197T>G	ENSP00000445278.2:n.5867-2197T>G
ENST00000558080.1:n.256T>G
ENST00000558319.5:c.5891T>G	ENSP00000453599.1:p.Phe1964Cys
ENST00000559511.5:c.715-4359T>G
ENST00000559822.1:c.434T>G
NM_001160227.1:c.5867-2197T>G	NP_001153699.1:n.5867-2197T>G
NM_025137.3:c.5891T>G	NP_079413.3:p.Phe1964Cys
XM_005254695.3:c.5633T>G	XP_005254752.1:p.Phe1878Cys
XM_006720700.1:c.5747T>G	XP_006720763.1:p.Phe1916Cys
XM_017022634.1:c.5891T>G	XP_016878123.1:p.Phe1964Cys
XM_017022636.1:c.2768T>G	XP_016878125.1:p.Phe923Cys
NM_025137.4:c.5891T>G MANE Select	NP_079413.3:p.Phe1964Cys
NM_001160227.2:c.5867-2197T>G	NP_001153699.1:n.5867-2197T>G