Canonical Allele Identifier: CA392218345

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44865869C>G (hg19) ; chr15:g.44573671C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573671C>G , CM000677.2:g.44573671C>G	GRCh38
NC_000015.9:g.44865869C>G , CM000677.1:g.44865869C>G	GRCh37
NC_000015.8:g.42653161C>G	NCBI36
NG_008885.1:g.95008G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-3013G>C	ENSP00000453246.2:n.5867-3013G>C
ENST00000561391.2:n.2309G>C
ENST00000682065.1:c.5937G>C	ENSP00000507025.1:p.Gln1979His
ENST00000682460.1:c.*2338G>C	ENSP00000508334.1:n.*2338G>C
ENST00000682495.1:c.*2573G>C	ENSP00000507166.1:n.*2573G>C
ENST00000682669.1:c.5880G>C	ENSP00000507782.1:p.Gln1960His
ENST00000683186.1:c.*2844G>C	ENSP00000507268.1:n.*2844G>C
ENST00000683496.1:c.6006+1231G>C	ENSP00000506968.1:n.6006+1231G>C
ENST00000683734.1:c.*31G>C	ENSP00000508319.1:n.*31G>C
ENST00000683753.1:n.5127G>C
ENST00000684038.1:c.*2501G>C	ENSP00000507141.1:n.*2501G>C
ENST00000684235.1:c.6081G>C	ENSP00000508295.1:p.Gln2027His
ENST00000684676.1:c.*230G>C	ENSP00000506948.1:n.*230G>C
ENST00000261866.12:c.6081G>C MANE Select	ENSP00000261866.7:p.Gln2027His
ENST00000261866.11:c.6081G>C	ENSP00000261866.7:p.Gln2027His
ENST00000427534.6:c.6081G>C	ENSP00000396110.2:p.Gln2027His
ENST00000535302.6:c.5867-851G>C	ENSP00000445278.2:n.5867-851G>C
ENST00000558080.1:n.446G>C
ENST00000558319.5:c.6081G>C	ENSP00000453599.1:p.Gln2027His
ENST00000559511.5:c.715-3013G>C
ENST00000559933.1:n.150G>C
ENST00000561268.5:n.13G>C
NM_001160227.1:c.5867-851G>C	NP_001153699.1:n.5867-851G>C
NM_025137.3:c.6081G>C	NP_079413.3:p.Gln2027His
XM_005254695.3:c.5823G>C	XP_005254752.1:p.Gln1941His
XM_006720700.1:c.5937G>C	XP_006720763.1:p.Gln1979His
XM_017022634.1:c.6081G>C	XP_016878123.1:p.Gln2027His
XM_017022636.1:c.2958G>C	XP_016878125.1:p.Gln986His
NM_025137.4:c.6081G>C MANE Select	NP_079413.3:p.Gln2027His
NM_001160227.2:c.5867-851G>C	NP_001153699.1:n.5867-851G>C