Canonical Allele Identifier: CA2730779372

Gene: SPG11

Linked Data

• dbSNP Id: rs2140931190

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574854T>A , CM000677.2:g.44574854T>A	GRCh38
NC_000015.9:g.44867052T>A , CM000677.1:g.44867052T>A	GRCh37
NC_000015.8:g.42654344T>A	NCBI36
NG_008885.1:g.93825A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559511.6:c.5867-4196A>T	ENSP00000453246.2:n.5867-4196A>T
ENST00000561391.2:n.2234+48A>T
ENST00000682065.1:c.5862+48A>T	ENSP00000507025.1:n.5862+48A>T
ENST00000682460.1:c.*2263+48A>T	ENSP00000508334.1:n.*2263+48A>T
ENST00000682495.1:c.*2498+48A>T	ENSP00000507166.1:n.*2498+48A>T
ENST00000682669.1:c.5805+48A>T	ENSP00000507782.1:n.5805+48A>T
ENST00000683186.1:c.*2769+48A>T	ENSP00000507268.1:n.*2769+48A>T
ENST00000683496.1:c.6006+48A>T	ENSP00000506968.1:n.6006+48A>T
ENST00000683734.1:c.5867-1109A>T	ENSP00000508319.1:n.5867-1109A>T
ENST00000683753.1:n.5052+48A>T
ENST00000684038.1:c.*2426+48A>T	ENSP00000507141.1:n.*2426+48A>T
ENST00000684235.1:c.6006+48A>T	ENSP00000508295.1:n.6006+48A>T
ENST00000684676.1:c.*155+48A>T	ENSP00000506948.1:n.*155+48A>T
ENST00000261866.12:c.6006+48A>T MANE Select	ENSP00000261866.7:n.6006+48A>T
ENST00000261866.11:c.6006+48A>T	ENSP00000261866.7:n.6006+48A>T
ENST00000427534.6:c.6006+48A>T	ENSP00000396110.2:n.6006+48A>T
ENST00000535302.6:c.5867-2034A>T	ENSP00000445278.2:n.5867-2034A>T
ENST00000558080.1:n.371+48A>T
ENST00000558319.5:c.6006+48A>T	ENSP00000453599.1:n.6006+48A>T
ENST00000559511.5:c.715-4196A>T
ENST00000559822.1:c.549+48A>T
NM_001160227.1:c.5867-2034A>T	NP_001153699.1:n.5867-2034A>T
NM_025137.3:c.6006+48A>T	NP_079413.3:n.6006+48A>T
XM_005254695.3:c.5748+48A>T	XP_005254752.1:n.5748+48A>T
XM_006720700.1:c.5862+48A>T	XP_006720763.1:n.5862+48A>T
XM_017022634.1:c.6006+48A>T	XP_016878123.1:n.6006+48A>T
XM_017022636.1:c.2883+48A>T	XP_016878125.1:n.2883+48A>T
NM_025137.4:c.6006+48A>T MANE Select	NP_079413.3:n.6006+48A>T
NM_001160227.2:c.5867-2034A>T	NP_001153699.1:n.5867-2034A>T