Canonical Allele Identifier: CA392216294

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862755G>C (hg19) ; chr15:g.44570557G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570557G>C , CM000677.2:g.44570557G>C	GRCh38
NC_000015.9:g.44862755G>C , CM000677.1:g.44862755G>C	GRCh37
NC_000015.8:g.42650047G>C	NCBI36
NG_008885.1:g.98122C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.244C>G	ENSP00000453314.2:p.His82Asp
ENST00000559511.6:c.5968C>G	ENSP00000453246.2:p.His1990Asp
ENST00000682065.1:c.6301C>G	ENSP00000507025.1:p.His2101Asp
ENST00000682460.1:c.*2702C>G	ENSP00000508334.1:n.*2702C>G
ENST00000682495.1:c.*2937C>G	ENSP00000507166.1:n.*2937C>G
ENST00000682669.1:c.6244C>G	ENSP00000507782.1:p.His2082Asp
ENST00000683186.1:c.*3208C>G	ENSP00000507268.1:n.*3208C>G
ENST00000683496.1:c.*87C>G	ENSP00000506968.1:n.*87C>G
ENST00000683734.1:c.*395C>G	ENSP00000508319.1:n.*395C>G
ENST00000683753.1:n.5491C>G
ENST00000684038.1:c.*2865C>G	ENSP00000507141.1:n.*2865C>G
ENST00000684235.1:c.6445C>G	ENSP00000508295.1:p.His2149Asp
ENST00000261866.12:c.6445C>G MANE Select	ENSP00000261866.7:p.His2149Asp
ENST00000261866.11:c.6445C>G	ENSP00000261866.7:p.His2149Asp
ENST00000427534.6:c.6445C>G	ENSP00000396110.2:p.His2149Asp
ENST00000535302.6:c.6106C>G	ENSP00000445278.2:p.His2036Asp
ENST00000558138.1:c.244C>G	ENSP00000453314.1:p.His82Asp
ENST00000559347.1:n.274C>G
ENST00000559511.5:c.816C>G
ENST00000559933.1:n.514C>G
ENST00000561268.5:n.275+2126C>G
NM_001160227.1:c.6106C>G	NP_001153699.1:p.His2036Asp
NM_025137.3:c.6445C>G	NP_079413.3:p.His2149Asp
XM_005254695.3:c.6187C>G	XP_005254752.1:p.His2063Asp
XM_006720700.1:c.6301C>G	XP_006720763.1:p.His2101Asp
XM_017022634.1:c.6445C>G	XP_016878123.1:p.His2149Asp
XM_017022636.1:c.3322C>G	XP_016878125.1:p.His1108Asp
NM_025137.4:c.6445C>G MANE Select	NP_079413.3:p.His2149Asp
NM_001160227.2:c.6106C>G	NP_001153699.1:p.His2036Asp