Canonical Allele Identifier: CA392227558

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44596152C>T , CM000677.2:g.44596152C>T	GRCh38
NC_000015.9:g.44888350C>T , CM000677.1:g.44888350C>T	GRCh37
NC_000015.8:g.42675642C>T	NCBI36
NG_008885.1:g.72527G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.4365G>A MANE Select	NP_079413.3:p.Trp1455Ter
ENST00000261866.12:c.4365G>A MANE Select	ENSP00000261866.7:p.Trp1455Ter
NM_001160227.1:c.4365G>A	NP_001153699.1:p.Trp1455Ter
NM_001160227.2:c.4365G>A	NP_001153699.1:p.Trp1455Ter
NM_025137.3:c.4365G>A	NP_079413.3:p.Trp1455Ter
ENST00000261866.11:c.4365G>A	ENSP00000261866.7:p.Trp1455Ter
ENST00000427534.6:c.4365G>A	ENSP00000396110.2:p.Trp1455Ter
ENST00000535302.6:c.4365G>A	ENSP00000445278.2:p.Trp1455Ter
ENST00000558155.1:c.195G>A	ENSP00000453238.1:p.Trp65Ter
ENST00000558319.5:c.4365G>A	ENSP00000453599.1:p.Trp1455Ter
ENST00000559511.6:c.4365G>A	ENSP00000453246.2:p.Trp1455Ter
ENST00000561391.1:n.593G>A
ENST00000561391.2:n.593G>A
ENST00000682065.1:c.4365G>A	ENSP00000507025.1:p.Trp1455Ter
ENST00000682460.1:c.*785G>A	ENSP00000508334.1:n.*785G>A
ENST00000682495.1:c.*857G>A	ENSP00000507166.1:n.*857G>A
ENST00000682669.1:c.4164G>A	ENSP00000507782.1:p.Trp1388Ter
ENST00000682788.1:c.4365G>A	ENSP00000508089.1:p.Trp1455Ter
ENST00000683121.1:c.4365G>A	ENSP00000507557.1:p.Trp1455Ter
ENST00000683186.1:c.*1128G>A	ENSP00000507268.1:n.*1128G>A
ENST00000683496.1:c.4365G>A	ENSP00000506968.1:p.Trp1455Ter
ENST00000683734.1:c.4365G>A	ENSP00000508319.1:p.Trp1455Ter
ENST00000683753.1:n.3411G>A
ENST00000684038.1:c.*785G>A	ENSP00000507141.1:n.*785G>A
ENST00000684235.1:c.4365G>A	ENSP00000508295.1:p.Trp1455Ter
ENST00000684676.1:c.4365G>A	ENSP00000506948.1:p.Trp1455Ter
XM_005254695.3:c.4107G>A	XP_005254752.1:p.Trp1369Ter
XM_006720700.1:c.4365G>A	XP_006720763.1:p.Trp1455Ter
XM_006720701.2:c.4365G>A	XP_006720764.1:p.Trp1455Ter
XM_006720701.3:c.4365G>A	XP_006720764.1:p.Trp1455Ter
XM_017022634.1:c.4365G>A	XP_016878123.1:p.Trp1455Ter
XM_017022635.2:c.4365G>A	XP_016878124.1:p.Trp1455Ter
XM_017022636.1:c.1242G>A	XP_016878125.1:p.Trp414Ter
XR_931917.1:n.4396G>A
XR_931917.2:n.4396G>A