Canonical Allele Identifier: CA392213175

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44565928G>A , CM000677.2:g.44565928G>A	GRCh38
NC_000015.9:g.44858126G>A , CM000677.1:g.44858126G>A	GRCh37
NC_000015.8:g.42645418G>A	NCBI36
NG_008885.1:g.102751C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.6925C>T MANE Select	NP_079413.3:p.Gln2309Ter
ENST00000261866.12:c.6925C>T MANE Select	ENSP00000261866.7:p.Gln2309Ter
NM_001160227.1:c.6586C>T	NP_001153699.1:p.Gln2196Ter
NM_001160227.2:c.6586C>T	NP_001153699.1:p.Gln2196Ter
NM_025137.3:c.6925C>T	NP_079413.3:p.Gln2309Ter
ENST00000261866.11:c.6925C>T	ENSP00000261866.7:p.Gln2309Ter
ENST00000427534.6:c.6754+1496C>T	ENSP00000396110.2:n.6754+1496C>T
ENST00000535302.6:c.6586C>T	ENSP00000445278.2:p.Gln2196Ter
ENST00000558138.1:c.616C>T	ENSP00000453314.1:p.Gln206Ter
ENST00000558138.2:c.616C>T	ENSP00000453314.2:p.Gln206Ter
ENST00000559511.5:c.1296C>T
ENST00000559511.6:c.6448C>T	ENSP00000453246.2:p.Gln2150Ter
ENST00000560299.1:n.217C>T
ENST00000682065.1:c.6781C>T	ENSP00000507025.1:p.Gln2261Ter
ENST00000682460.1:c.*3182C>T	ENSP00000508334.1:n.*3182C>T
ENST00000682495.1:c.*3417C>T	ENSP00000507166.1:n.*3417C>T
ENST00000682669.1:c.6724C>T	ENSP00000507782.1:p.Gln2242Ter
ENST00000683186.1:c.*3688C>T	ENSP00000507268.1:n.*3688C>T
ENST00000683496.1:c.*567C>T	ENSP00000506968.1:n.*567C>T
ENST00000683734.1:c.*875C>T	ENSP00000508319.1:n.*875C>T
ENST00000683753.1:n.5971C>T
ENST00000684038.1:c.*3345C>T	ENSP00000507141.1:n.*3345C>T
ENST00000684235.1:c.6925C>T	ENSP00000508295.1:p.Gln2309Ter
XM_005254695.3:c.6667C>T	XP_005254752.1:p.Gln2223Ter
XM_006720700.1:c.6781C>T	XP_006720763.1:p.Gln2261Ter
XM_017022634.1:c.6817C>T	XP_016878123.1:p.Gln2273Ter
XM_017022636.1:c.3802C>T	XP_016878125.1:p.Gln1268Ter