Canonical Allele Identifier: CA7534559

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44589270C>A , CM000677.2:g.44589270C>A	GRCh38
NC_000015.9:g.44881468C>A , CM000677.1:g.44881468C>A	GRCh37
NC_000015.8:g.42668760C>A	NCBI36
NG_008885.1:g.79409G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.4888G>T MANE Select	NP_079413.3:p.Glu1630Ter
ENST00000261866.12:c.4888G>T MANE Select	ENSP00000261866.7:p.Glu1630Ter
NM_001160227.1:c.4888G>T	NP_001153699.1:p.Glu1630Ter
NM_001160227.2:c.4888G>T	NP_001153699.1:p.Glu1630Ter
NM_025137.3:c.4888G>T	NP_079413.3:p.Glu1630Ter
ENST00000261866.11:c.4888G>T	ENSP00000261866.7:p.Glu1630Ter
ENST00000427534.6:c.4888G>T	ENSP00000396110.2:p.Glu1630Ter
ENST00000535302.6:c.4888G>T	ENSP00000445278.2:p.Glu1630Ter
ENST00000558155.1:c.540G>T	ENSP00000453238.1:n.540G>T
ENST00000558253.5:n.662G>T
ENST00000558319.5:c.4888G>T	ENSP00000453599.1:p.Glu1630Ter
ENST00000558790.5:n.253G>T
ENST00000559511.6:c.4888G>T	ENSP00000453246.2:p.Glu1630Ter
ENST00000560858.1:c.268G>T	ENSP00000452991.1:p.Glu90Ter
ENST00000561391.2:n.1116G>T
ENST00000682065.1:c.4888G>T	ENSP00000507025.1:p.Glu1630Ter
ENST00000682460.1:c.*1163+3061G>T	ENSP00000508334.1:n.*1163+3061G>T
ENST00000682495.1:c.*1380G>T	ENSP00000507166.1:n.*1380G>T
ENST00000682669.1:c.4687G>T	ENSP00000507782.1:p.Glu1563Ter
ENST00000682788.1:c.4888G>T	ENSP00000508089.1:p.Glu1630Ter
ENST00000683121.1:c.*231G>T	ENSP00000507557.1:n.*231G>T
ENST00000683186.1:c.*1651G>T	ENSP00000507268.1:n.*1651G>T
ENST00000683496.1:c.4888G>T	ENSP00000506968.1:p.Glu1630Ter
ENST00000683734.1:c.4888G>T	ENSP00000508319.1:p.Glu1630Ter
ENST00000683753.1:n.3934G>T
ENST00000684038.1:c.*1308G>T	ENSP00000507141.1:n.*1308G>T
ENST00000684235.1:c.4888G>T	ENSP00000508295.1:p.Glu1630Ter
ENST00000684676.1:c.4888G>T	ENSP00000506948.1:p.Glu1630Ter
XM_005254695.3:c.4630G>T	XP_005254752.1:p.Glu1544Ter
XM_006720700.1:c.4888G>T	XP_006720763.1:p.Glu1630Ter
XM_006720701.2:c.4743+3061G>T	XP_006720764.1:n.4743+3061G>T
XM_006720701.3:c.4743+3061G>T	XP_006720764.1:n.4743+3061G>T
XM_017022634.1:c.4888G>T	XP_016878123.1:p.Glu1630Ter
XM_017022636.1:c.1765G>T	XP_016878125.1:p.Glu589Ter
XR_931917.2:n.4942G>T