Canonical Allele Identifier: CA392222928

Gene: SPG11

Linked Data

• dbSNP Id: rs2140947395
• gnomAD v4: 15-44584416-T-C
• MyVariant Identifiers: chr15:g.44876614T>C (hg19) ; chr15:g.44584416T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584416T>C , CM000677.2:g.44584416T>C	GRCh38
NC_000015.9:g.44876614T>C , CM000677.1:g.44876614T>C	GRCh37
NC_000015.8:g.42663906T>C	NCBI36
NG_008885.1:g.84263A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5264A>G	ENSP00000453246.2:p.Gln1755Arg
ENST00000561391.2:n.1492A>G
ENST00000682065.1:c.5122-2A>G	ENSP00000507025.1:n.5122-2A>G
ENST00000682460.1:c.*1521A>G	ENSP00000508334.1:n.*1521A>G
ENST00000682495.1:c.*1756A>G	ENSP00000507166.1:n.*1756A>G
ENST00000682669.1:c.5063A>G	ENSP00000507782.1:p.Gln1688Arg
ENST00000683186.1:c.*2027A>G	ENSP00000507268.1:n.*2027A>G
ENST00000683496.1:c.5264A>G	ENSP00000506968.1:p.Gln1755Arg
ENST00000683734.1:c.5264A>G	ENSP00000508319.1:p.Gln1755Arg
ENST00000683753.1:n.4310A>G
ENST00000684038.1:c.*1684A>G	ENSP00000507141.1:n.*1684A>G
ENST00000684235.1:c.5264A>G	ENSP00000508295.1:p.Gln1755Arg
ENST00000684676.1:c.5264A>G	ENSP00000506948.1:p.Gln1755Arg
ENST00000261866.12:c.5264A>G MANE Select	ENSP00000261866.7:p.Gln1755Arg
ENST00000261866.11:c.5264A>G	ENSP00000261866.7:p.Gln1755Arg
ENST00000427534.6:c.5264A>G	ENSP00000396110.2:p.Gln1755Arg
ENST00000535302.6:c.5264A>G	ENSP00000445278.2:p.Gln1755Arg
ENST00000558319.5:c.5264A>G	ENSP00000453599.1:p.Gln1755Arg
ENST00000558790.5:n.701A>G
ENST00000559511.5:c.112A>G
ENST00000559822.1:c.36A>G
NM_001160227.1:c.5264A>G	NP_001153699.1:p.Gln1755Arg
NM_025137.3:c.5264A>G	NP_079413.3:p.Gln1755Arg
XM_005254695.3:c.5006A>G	XP_005254752.1:p.Gln1669Arg
XM_006720700.1:c.5122-2A>G	XP_006720763.1:n.5122-2A>G
XM_017022634.1:c.5264A>G	XP_016878123.1:p.Gln1755Arg
XM_017022636.1:c.2141A>G	XP_016878125.1:p.Gln714Arg
XR_931917.2:n.5318A>G
NM_025137.4:c.5264A>G MANE Select	NP_079413.3:p.Gln1755Arg
NM_001160227.2:c.5264A>G	NP_001153699.1:p.Gln1755Arg