Canonical Allele Identifier: CA270059929

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44567454G>A , CM000677.2:g.44567454G>A	GRCh38
NC_000015.9:g.44859652G>A , CM000677.1:g.44859652G>A	GRCh37
NC_000015.8:g.42646944G>A	NCBI36
NG_008885.1:g.101225C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.6724C>T MANE Select	NP_079413.3:p.Gln2242Ter
ENST00000261866.12:c.6724C>T MANE Select	ENSP00000261866.7:p.Gln2242Ter
NM_001160227.1:c.6385C>T	NP_001153699.1:p.Gln2129Ter
NM_001160227.2:c.6385C>T	NP_001153699.1:p.Gln2129Ter
NM_025137.3:c.6724C>T	NP_079413.3:p.Gln2242Ter
ENST00000261866.11:c.6724C>T	ENSP00000261866.7:p.Gln2242Ter
ENST00000427534.6:c.6724C>T	ENSP00000396110.2:p.Gln2242Ter
ENST00000535302.6:c.6385C>T	ENSP00000445278.2:p.Gln2129Ter
ENST00000558138.1:c.415C>T	ENSP00000453314.1:p.Gln139Ter
ENST00000558138.2:c.415C>T	ENSP00000453314.2:p.Gln139Ter
ENST00000559347.1:n.553C>T
ENST00000559511.5:c.1095C>T
ENST00000559511.6:c.6247C>T	ENSP00000453246.2:p.Gln2083Ter
ENST00000561268.5:n.414C>T
ENST00000682065.1:c.6580C>T	ENSP00000507025.1:p.Gln2194Ter
ENST00000682460.1:c.*2981C>T	ENSP00000508334.1:n.*2981C>T
ENST00000682495.1:c.*3216C>T	ENSP00000507166.1:n.*3216C>T
ENST00000682669.1:c.6523C>T	ENSP00000507782.1:p.Gln2175Ter
ENST00000683186.1:c.*3487C>T	ENSP00000507268.1:n.*3487C>T
ENST00000683496.1:c.*366C>T	ENSP00000506968.1:n.*366C>T
ENST00000683734.1:c.*674C>T	ENSP00000508319.1:n.*674C>T
ENST00000683753.1:n.5770C>T
ENST00000684038.1:c.*3144C>T	ENSP00000507141.1:n.*3144C>T
ENST00000684235.1:c.6724C>T	ENSP00000508295.1:p.Gln2242Ter
XM_005254695.3:c.6466C>T	XP_005254752.1:p.Gln2156Ter
XM_006720700.1:c.6580C>T	XP_006720763.1:p.Gln2194Ter
XM_017022634.1:c.6616C>T	XP_016878123.1:p.Gln2206Ter
XM_017022636.1:c.3601C>T	XP_016878125.1:p.Gln1201Ter