Canonical Allele Identifier: CA7534517

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44585746G>A , CM000677.2:g.44585746G>A	GRCh38
NC_000015.9:g.44877944G>A , CM000677.1:g.44877944G>A	GRCh37
NC_000015.8:g.42665236G>A	NCBI36
NG_008885.1:g.82933C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.5011C>T MANE Select	NP_079413.3:p.His1671Tyr
ENST00000261866.12:c.5011C>T MANE Select	ENSP00000261866.7:p.His1671Tyr
NM_001160227.1:c.5011C>T	NP_001153699.1:p.His1671Tyr
NM_001160227.2:c.5011C>T	NP_001153699.1:p.His1671Tyr
NM_025137.3:c.5011C>T	NP_079413.3:p.His1671Tyr
ENST00000261866.11:c.5011C>T	ENSP00000261866.7:p.His1671Tyr
ENST00000427534.6:c.5011C>T	ENSP00000396110.2:p.His1671Tyr
ENST00000535302.6:c.5011C>T	ENSP00000445278.2:p.His1671Tyr
ENST00000558253.5:n.785C>T
ENST00000558319.5:c.5011C>T	ENSP00000453599.1:p.His1671Tyr
ENST00000558790.5:n.448C>T
ENST00000559511.6:c.5011C>T	ENSP00000453246.2:p.His1671Tyr
ENST00000561391.2:n.1239C>T
ENST00000682065.1:c.5011C>T	ENSP00000507025.1:p.His1671Tyr
ENST00000682460.1:c.*1268C>T	ENSP00000508334.1:n.*1268C>T
ENST00000682495.1:c.*1503C>T	ENSP00000507166.1:n.*1503C>T
ENST00000682669.1:c.4810C>T	ENSP00000507782.1:p.His1604Tyr
ENST00000683186.1:c.*1774C>T	ENSP00000507268.1:n.*1774C>T
ENST00000683496.1:c.5011C>T	ENSP00000506968.1:p.His1671Tyr
ENST00000683734.1:c.5011C>T	ENSP00000508319.1:p.His1671Tyr
ENST00000683753.1:n.4057C>T
ENST00000684038.1:c.*1431C>T	ENSP00000507141.1:n.*1431C>T
ENST00000684235.1:c.5011C>T	ENSP00000508295.1:p.His1671Tyr
ENST00000684676.1:c.5011C>T	ENSP00000506948.1:p.His1671Tyr
XM_005254695.3:c.4753C>T	XP_005254752.1:p.His1585Tyr
XM_006720700.1:c.5011C>T	XP_006720763.1:p.His1671Tyr
XM_006720701.3:c.*93C>T	XP_006720764.1:n.*93C>T
XM_017022634.1:c.5011C>T	XP_016878123.1:p.His1671Tyr
XM_017022636.1:c.1888C>T	XP_016878125.1:p.His630Tyr
XR_931917.2:n.5065C>T