Canonical Allele Identifier: CA7534175

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44572678C>A , CM000677.2:g.44572678C>A	GRCh38
NC_000015.9:g.44864876C>A , CM000677.1:g.44864876C>A	GRCh37
NC_000015.8:g.42652168C>A	NCBI36
NG_008885.1:g.96001G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.6343+5G>T MANE Select	NP_079413.3:n.6343+5G>T
ENST00000261866.12:c.6343+5G>T MANE Select	ENSP00000261866.7:n.6343+5G>T
NM_001160227.1:c.6004+5G>T	NP_001153699.1:n.6004+5G>T
NM_001160227.2:c.6004+5G>T	NP_001153699.1:n.6004+5G>T
NM_025137.3:c.6343+5G>T	NP_079413.3:n.6343+5G>T
ENST00000261866.11:c.6343+5G>T	ENSP00000261866.7:n.6343+5G>T
ENST00000427534.6:c.6343+5G>T	ENSP00000396110.2:n.6343+5G>T
ENST00000535302.6:c.6004+5G>T	ENSP00000445278.2:n.6004+5G>T
ENST00000558138.1:c.142+5G>T	ENSP00000453314.1:n.142+5G>T
ENST00000558138.2:c.142+5G>T	ENSP00000453314.2:n.142+5G>T
ENST00000559511.5:c.715-2020G>T
ENST00000559511.6:c.5867-2020G>T	ENSP00000453246.2:n.5867-2020G>T
ENST00000559933.1:n.412+5G>T
ENST00000561268.5:n.275+5G>T
ENST00000682065.1:c.6199+5G>T	ENSP00000507025.1:n.6199+5G>T
ENST00000682460.1:c.*2600+5G>T	ENSP00000508334.1:n.*2600+5G>T
ENST00000682495.1:c.*2835+5G>T	ENSP00000507166.1:n.*2835+5G>T
ENST00000682669.1:c.6142+5G>T	ENSP00000507782.1:n.6142+5G>T
ENST00000683186.1:c.*3106+5G>T	ENSP00000507268.1:n.*3106+5G>T
ENST00000683496.1:c.6007-2026G>T	ENSP00000506968.1:n.6007-2026G>T
ENST00000683734.1:c.*293+5G>T	ENSP00000508319.1:n.*293+5G>T
ENST00000683753.1:n.5389+5G>T
ENST00000684038.1:c.*2763+5G>T	ENSP00000507141.1:n.*2763+5G>T
ENST00000684235.1:c.6343+5G>T	ENSP00000508295.1:n.6343+5G>T
XM_005254695.3:c.6085+5G>T	XP_005254752.1:n.6085+5G>T
XM_006720700.1:c.6199+5G>T	XP_006720763.1:n.6199+5G>T
XM_017022634.1:c.6343+5G>T	XP_016878123.1:n.6343+5G>T
XM_017022636.1:c.3220+5G>T	XP_016878125.1:n.3220+5G>T