Canonical Allele Identifier: CA392221027

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44583865C>A , CM000677.2:g.44583865C>A	GRCh38
NC_000015.9:g.44876063C>A , CM000677.1:g.44876063C>A	GRCh37
NC_000015.8:g.42663355C>A	NCBI36
NG_008885.1:g.84814G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.5815G>T MANE Select	NP_079413.3:p.Glu1939Ter
ENST00000261866.12:c.5815G>T MANE Select	ENSP00000261866.7:p.Glu1939Ter
NM_001160227.1:c.5815G>T	NP_001153699.1:p.Glu1939Ter
NM_001160227.2:c.5815G>T	NP_001153699.1:p.Glu1939Ter
NM_025137.3:c.5815G>T	NP_079413.3:p.Glu1939Ter
ENST00000261866.11:c.5815G>T	ENSP00000261866.7:p.Glu1939Ter
ENST00000427534.6:c.5815G>T	ENSP00000396110.2:p.Glu1939Ter
ENST00000535302.6:c.5815G>T	ENSP00000445278.2:p.Glu1939Ter
ENST00000558319.5:c.5815G>T	ENSP00000453599.1:p.Glu1939Ter
ENST00000559511.5:c.663G>T
ENST00000559511.6:c.5815G>T	ENSP00000453246.2:p.Glu1939Ter
ENST00000559822.1:c.358G>T
ENST00000561391.2:n.2043G>T
ENST00000682065.1:c.5671G>T	ENSP00000507025.1:p.Glu1891Ter
ENST00000682460.1:c.*2072G>T	ENSP00000508334.1:n.*2072G>T
ENST00000682495.1:c.*2307G>T	ENSP00000507166.1:n.*2307G>T
ENST00000682669.1:c.5614G>T	ENSP00000507782.1:p.Glu1872Ter
ENST00000683186.1:c.*2578G>T	ENSP00000507268.1:n.*2578G>T
ENST00000683496.1:c.5815G>T	ENSP00000506968.1:p.Glu1939Ter
ENST00000683734.1:c.5815G>T	ENSP00000508319.1:p.Glu1939Ter
ENST00000683753.1:n.4861G>T
ENST00000684038.1:c.*2235G>T	ENSP00000507141.1:n.*2235G>T
ENST00000684235.1:c.5815G>T	ENSP00000508295.1:p.Glu1939Ter
ENST00000684676.1:c.5586G>T	ENSP00000506948.1:p.Leu1862=
XM_005254695.3:c.5557G>T	XP_005254752.1:p.Glu1853Ter
XM_006720700.1:c.5671G>T	XP_006720763.1:p.Glu1891Ter
XM_017022634.1:c.5815G>T	XP_016878123.1:p.Glu1939Ter
XM_017022636.1:c.2692G>T	XP_016878125.1:p.Glu898Ter