Canonical Allele Identifier: CA392216287

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862751A>C (hg19) ; chr15:g.44570553A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570553A>C , CM000677.2:g.44570553A>C	GRCh38
NC_000015.9:g.44862751A>C , CM000677.1:g.44862751A>C	GRCh37
NC_000015.8:g.42650043A>C	NCBI36
NG_008885.1:g.98126T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.248T>G	ENSP00000453314.2:p.Leu83Arg
ENST00000559511.6:c.5972T>G	ENSP00000453246.2:p.Leu1991Arg
ENST00000682065.1:c.6305T>G	ENSP00000507025.1:p.Leu2102Arg
ENST00000682460.1:c.*2706T>G	ENSP00000508334.1:n.*2706T>G
ENST00000682495.1:c.*2941T>G	ENSP00000507166.1:n.*2941T>G
ENST00000682669.1:c.6248T>G	ENSP00000507782.1:p.Leu2083Arg
ENST00000683186.1:c.*3212T>G	ENSP00000507268.1:n.*3212T>G
ENST00000683496.1:c.*91T>G	ENSP00000506968.1:n.*91T>G
ENST00000683734.1:c.*399T>G	ENSP00000508319.1:n.*399T>G
ENST00000683753.1:n.5495T>G
ENST00000684038.1:c.*2869T>G	ENSP00000507141.1:n.*2869T>G
ENST00000684235.1:c.6449T>G	ENSP00000508295.1:p.Leu2150Arg
ENST00000261866.12:c.6449T>G MANE Select	ENSP00000261866.7:p.Leu2150Arg
ENST00000261866.11:c.6449T>G	ENSP00000261866.7:p.Leu2150Arg
ENST00000427534.6:c.6449T>G	ENSP00000396110.2:p.Leu2150Arg
ENST00000535302.6:c.6110T>G	ENSP00000445278.2:p.Leu2037Arg
ENST00000558138.1:c.248T>G	ENSP00000453314.1:p.Leu83Arg
ENST00000559347.1:n.278T>G
ENST00000559511.5:c.820T>G
ENST00000559933.1:n.518T>G
ENST00000561268.5:n.275+2130T>G
NM_001160227.1:c.6110T>G	NP_001153699.1:p.Leu2037Arg
NM_025137.3:c.6449T>G	NP_079413.3:p.Leu2150Arg
XM_005254695.3:c.6191T>G	XP_005254752.1:p.Leu2064Arg
XM_006720700.1:c.6305T>G	XP_006720763.1:p.Leu2102Arg
XM_017022634.1:c.6449T>G	XP_016878123.1:p.Leu2150Arg
XM_017022636.1:c.3326T>G	XP_016878125.1:p.Leu1109Arg
NM_025137.4:c.6449T>G MANE Select	NP_079413.3:p.Leu2150Arg
NM_001160227.2:c.6110T>G	NP_001153699.1:p.Leu2037Arg