Canonical Allele Identifier: CA7533841

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44563204C>T , CM000677.2:g.44563204C>T	GRCh38
NC_000015.9:g.44855402C>T , CM000677.1:g.44855402C>T	GRCh37
NC_000015.8:g.42642694C>T	NCBI36
NG_008885.1:g.105475G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.7249G>A MANE Select	NP_079413.3:p.Glu2417Lys
ENST00000261866.12:c.7249G>A MANE Select	ENSP00000261866.7:p.Glu2417Lys
NM_001160227.1:c.6910G>A	NP_001153699.1:p.Glu2304Lys
NM_001160227.2:c.6910G>A	NP_001153699.1:p.Glu2304Lys
NM_025137.3:c.7249G>A	NP_079413.3:p.Glu2417Lys
ENST00000261866.11:c.7249G>A	ENSP00000261866.7:p.Glu2417Lys
ENST00000427534.6:c.6852G>A	ENSP00000396110.2:n.6852G>A
ENST00000535302.6:c.6910G>A	ENSP00000445278.2:p.Glu2304Lys
ENST00000558138.2:c.940G>A	ENSP00000453314.2:p.Glu314Lys
ENST00000559511.5:c.1620G>A
ENST00000559511.6:c.6772G>A	ENSP00000453246.2:p.Glu2258Lys
ENST00000682065.1:c.7105G>A	ENSP00000507025.1:p.Glu2369Lys
ENST00000682460.1:c.*3506G>A	ENSP00000508334.1:n.*3506G>A
ENST00000682495.1:c.*3741G>A	ENSP00000507166.1:n.*3741G>A
ENST00000682669.1:c.7048G>A	ENSP00000507782.1:p.Glu2350Lys
ENST00000683186.1:c.*4012G>A	ENSP00000507268.1:n.*4012G>A
ENST00000683496.1:c.*891G>A	ENSP00000506968.1:n.*891G>A
ENST00000683734.1:c.*1199G>A	ENSP00000508319.1:n.*1199G>A
ENST00000683753.1:n.6295G>A
ENST00000684038.1:c.*3669G>A	ENSP00000507141.1:n.*3669G>A
ENST00000684235.1:c.7151+1343G>A	ENSP00000508295.1:n.7151+1343G>A
XM_005254695.3:c.6991G>A	XP_005254752.1:p.Glu2331Lys
XM_006720700.1:c.7105G>A	XP_006720763.1:p.Glu2369Lys
XM_017022634.1:c.7141G>A	XP_016878123.1:p.Glu2381Lys
XM_017022636.1:c.4126G>A	XP_016878125.1:p.Glu1376Lys