Canonical Allele Identifier: CA392230392

Gene: SPG11

Linked Data

• ClinVar Variation Id: 976017
• ClinVar RCV Id: RCV001253183
• dbSNP Id: rs2083110455
• MyVariant Identifiers: chr15:g.44890996A>G (hg19) ; chr15:g.44598798A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44598798A>G , CM000677.2:g.44598798A>G	GRCh38
NC_000015.9:g.44890996A>G , CM000677.1:g.44890996A>G	GRCh37
NC_000015.8:g.42678288A>G	NCBI36
NG_008885.1:g.69881T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.3725T>C	ENSP00000453246.2:p.Leu1242Pro
ENST00000682065.1:c.3725T>C	ENSP00000507025.1:p.Leu1242Pro
ENST00000682460.1:c.*145T>C	ENSP00000508334.1:n.*145T>C
ENST00000682495.1:c.*217T>C	ENSP00000507166.1:n.*217T>C
ENST00000682669.1:c.3524T>C	ENSP00000507782.1:p.Leu1175Pro
ENST00000682788.1:c.3725T>C	ENSP00000508089.1:p.Leu1242Pro
ENST00000682915.1:c.3818T>C	ENSP00000507493.1:n.3818T>C
ENST00000683121.1:c.3725T>C	ENSP00000507557.1:p.Leu1242Pro
ENST00000683186.1:c.*488T>C	ENSP00000507268.1:n.*488T>C
ENST00000683496.1:c.3725T>C	ENSP00000506968.1:p.Leu1242Pro
ENST00000683734.1:c.3725T>C	ENSP00000508319.1:p.Leu1242Pro
ENST00000683753.1:n.2771T>C
ENST00000683838.1:n.799T>C
ENST00000684038.1:c.*145T>C	ENSP00000507141.1:n.*145T>C
ENST00000684235.1:c.3725T>C	ENSP00000508295.1:p.Leu1242Pro
ENST00000684676.1:c.3725T>C	ENSP00000506948.1:p.Leu1242Pro
ENST00000261866.12:c.3725T>C MANE Select	ENSP00000261866.7:p.Leu1242Pro
ENST00000261866.11:c.3725T>C	ENSP00000261866.7:p.Leu1242Pro
ENST00000427534.6:c.3725T>C	ENSP00000396110.2:p.Leu1242Pro
ENST00000535302.6:c.3725T>C	ENSP00000445278.2:p.Leu1242Pro
ENST00000558093.1:n.339T>C
ENST00000558319.5:c.3725T>C	ENSP00000453599.1:p.Leu1242Pro
NM_001160227.1:c.3725T>C	NP_001153699.1:p.Leu1242Pro
NM_025137.3:c.3725T>C	NP_079413.3:p.Leu1242Pro
XM_005254695.3:c.3467T>C	XP_005254752.1:p.Leu1156Pro
XM_006720700.1:c.3725T>C	XP_006720763.1:p.Leu1242Pro
XM_006720701.2:c.3725T>C	XP_006720764.1:p.Leu1242Pro
XM_011522093.1:c.3687-425T>C	XP_011520395.1:n.3687-425T>C
XR_931917.1:n.3756T>C
XM_006720701.3:c.3725T>C	XP_006720764.1:p.Leu1242Pro
XM_017022634.1:c.3725T>C	XP_016878123.1:p.Leu1242Pro
XM_017022635.2:c.3725T>C	XP_016878124.1:p.Leu1242Pro
XM_017022636.1:c.602T>C	XP_016878125.1:p.Leu201Pro
XR_001751402.1:n.3718-425T>C
XR_931917.2:n.3756T>C
NM_025137.4:c.3725T>C MANE Select	NP_079413.3:p.Leu1242Pro
NM_001160227.2:c.3725T>C	NP_001153699.1:p.Leu1242Pro