Canonical Allele Identifier: CA490203416

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44572743A>G , CM000677.2:g.44572743A>G	GRCh38
NC_000015.9:g.44864941A>G , CM000677.1:g.44864941A>G	GRCh37
NC_000015.8:g.42652233A>G	NCBI36
NG_008885.1:g.95936T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.6283T>C MANE Select	NP_079413.3:p.Leu2095=
ENST00000261866.12:c.6283T>C MANE Select	ENSP00000261866.7:p.Leu2095=
NM_001160227.1:c.5944T>C	NP_001153699.1:p.Leu1982=
NM_001160227.2:c.5944T>C	NP_001153699.1:p.Leu1982=
NM_025137.3:c.6283T>C	NP_079413.3:p.Leu2095=
ENST00000261866.11:c.6283T>C	ENSP00000261866.7:p.Leu2095=
ENST00000427534.6:c.6283T>C	ENSP00000396110.2:p.Leu2095=
ENST00000535302.6:c.5944T>C	ENSP00000445278.2:p.Leu1982=
ENST00000558138.1:c.82T>C	ENSP00000453314.1:p.Leu28=
ENST00000558138.2:c.82T>C	ENSP00000453314.2:p.Leu28=
ENST00000559511.5:c.715-2085T>C
ENST00000559511.6:c.5867-2085T>C	ENSP00000453246.2:n.5867-2085T>C
ENST00000559933.1:n.352T>C
ENST00000561268.5:n.215T>C
ENST00000682065.1:c.6139T>C	ENSP00000507025.1:p.Leu2047=
ENST00000682460.1:c.*2540T>C	ENSP00000508334.1:n.*2540T>C
ENST00000682495.1:c.*2775T>C	ENSP00000507166.1:n.*2775T>C
ENST00000682669.1:c.6082T>C	ENSP00000507782.1:p.Leu2028=
ENST00000683186.1:c.*3046T>C	ENSP00000507268.1:n.*3046T>C
ENST00000683496.1:c.6007-2091T>C	ENSP00000506968.1:n.6007-2091T>C
ENST00000683734.1:c.*233T>C	ENSP00000508319.1:n.*233T>C
ENST00000683753.1:n.5329T>C
ENST00000684038.1:c.*2703T>C	ENSP00000507141.1:n.*2703T>C
ENST00000684235.1:c.6283T>C	ENSP00000508295.1:p.Leu2095=
XM_005254695.3:c.6025T>C	XP_005254752.1:p.Leu2009=
XM_006720700.1:c.6139T>C	XP_006720763.1:p.Leu2047=
XM_017022634.1:c.6283T>C	XP_016878123.1:p.Leu2095=
XM_017022636.1:c.3160T>C	XP_016878125.1:p.Leu1054=