Canonical Allele Identifier: CA392223254

Gene: SPG11

Linked Data

• ClinVar Variation Id: 3168991
• ClinVar RCV Id: RCV004462887
• MyVariant Identifiers: chr15:g.44876756T>A (hg19) ; chr15:g.44584558T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584558T>A , CM000677.2:g.44584558T>A	GRCh38
NC_000015.9:g.44876756T>A , CM000677.1:g.44876756T>A	GRCh37
NC_000015.8:g.42664048T>A	NCBI36
NG_008885.1:g.84121A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5122A>T	ENSP00000453246.2:p.Ile1708Leu
ENST00000561391.2:n.1350A>T
ENST00000682065.1:c.5122-144A>T	ENSP00000507025.1:n.5122-144A>T
ENST00000682460.1:c.*1379A>T	ENSP00000508334.1:n.*1379A>T
ENST00000682495.1:c.*1614A>T	ENSP00000507166.1:n.*1614A>T
ENST00000682669.1:c.4921A>T	ENSP00000507782.1:p.Ile1641Leu
ENST00000683186.1:c.*1885A>T	ENSP00000507268.1:n.*1885A>T
ENST00000683496.1:c.5122A>T	ENSP00000506968.1:p.Ile1708Leu
ENST00000683734.1:c.5122A>T	ENSP00000508319.1:p.Ile1708Leu
ENST00000683753.1:n.4168A>T
ENST00000684038.1:c.*1542A>T	ENSP00000507141.1:n.*1542A>T
ENST00000684235.1:c.5122A>T	ENSP00000508295.1:p.Ile1708Leu
ENST00000684676.1:c.5122A>T	ENSP00000506948.1:p.Ile1708Leu
ENST00000261866.12:c.5122A>T MANE Select	ENSP00000261866.7:p.Ile1708Leu
ENST00000261866.11:c.5122A>T	ENSP00000261866.7:p.Ile1708Leu
ENST00000427534.6:c.5122A>T	ENSP00000396110.2:p.Ile1708Leu
ENST00000535302.6:c.5122A>T	ENSP00000445278.2:p.Ile1708Leu
ENST00000558319.5:c.5122A>T	ENSP00000453599.1:p.Ile1708Leu
ENST00000558790.5:n.559A>T
NM_001160227.1:c.5122A>T	NP_001153699.1:p.Ile1708Leu
NM_025137.3:c.5122A>T	NP_079413.3:p.Ile1708Leu
XM_005254695.3:c.4864A>T	XP_005254752.1:p.Ile1622Leu
XM_006720700.1:c.5122-144A>T	XP_006720763.1:n.5122-144A>T
XM_017022634.1:c.5122A>T	XP_016878123.1:p.Ile1708Leu
XM_017022636.1:c.1999A>T	XP_016878125.1:p.Ile667Leu
XR_931917.2:n.5176A>T
NM_025137.4:c.5122A>T MANE Select	NP_079413.3:p.Ile1708Leu
NM_001160227.2:c.5122A>T	NP_001153699.1:p.Ile1708Leu