Canonical Allele Identifier: CA392223252

Gene: SPG11

Linked Data

• dbSNP Id: rs1311220191
• gnomAD v2: 15-44876755-A-C
• gnomAD v4: 15-44584557-A-C
• MyVariant Identifiers: chr15:g.44876755A>C (hg19) ; chr15:g.44584557A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584557A>C , CM000677.2:g.44584557A>C	GRCh38
NC_000015.9:g.44876755A>C , CM000677.1:g.44876755A>C	GRCh37
NC_000015.8:g.42664047A>C	NCBI36
NG_008885.1:g.84122T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5123T>G	ENSP00000453246.2:p.Ile1708Arg
ENST00000561391.2:n.1351T>G
ENST00000682065.1:c.5122-143T>G	ENSP00000507025.1:n.5122-143T>G
ENST00000682460.1:c.*1380T>G	ENSP00000508334.1:n.*1380T>G
ENST00000682495.1:c.*1615T>G	ENSP00000507166.1:n.*1615T>G
ENST00000682669.1:c.4922T>G	ENSP00000507782.1:p.Ile1641Arg
ENST00000683186.1:c.*1886T>G	ENSP00000507268.1:n.*1886T>G
ENST00000683496.1:c.5123T>G	ENSP00000506968.1:p.Ile1708Arg
ENST00000683734.1:c.5123T>G	ENSP00000508319.1:p.Ile1708Arg
ENST00000683753.1:n.4169T>G
ENST00000684038.1:c.*1543T>G	ENSP00000507141.1:n.*1543T>G
ENST00000684235.1:c.5123T>G	ENSP00000508295.1:p.Ile1708Arg
ENST00000684676.1:c.5123T>G	ENSP00000506948.1:p.Ile1708Arg
ENST00000261866.12:c.5123T>G MANE Select	ENSP00000261866.7:p.Ile1708Arg
ENST00000261866.11:c.5123T>G	ENSP00000261866.7:p.Ile1708Arg
ENST00000427534.6:c.5123T>G	ENSP00000396110.2:p.Ile1708Arg
ENST00000535302.6:c.5123T>G	ENSP00000445278.2:p.Ile1708Arg
ENST00000558319.5:c.5123T>G	ENSP00000453599.1:p.Ile1708Arg
ENST00000558790.5:n.560T>G
NM_001160227.1:c.5123T>G	NP_001153699.1:p.Ile1708Arg
NM_025137.3:c.5123T>G	NP_079413.3:p.Ile1708Arg
XM_005254695.3:c.4865T>G	XP_005254752.1:p.Ile1622Arg
XM_006720700.1:c.5122-143T>G	XP_006720763.1:n.5122-143T>G
XM_017022634.1:c.5123T>G	XP_016878123.1:p.Ile1708Arg
XM_017022636.1:c.2000T>G	XP_016878125.1:p.Ile667Arg
XR_931917.2:n.5177T>G
NM_025137.4:c.5123T>G MANE Select	NP_079413.3:p.Ile1708Arg
NM_001160227.2:c.5123T>G	NP_001153699.1:p.Ile1708Arg