Canonical Allele Identifier: CA7534863

Gene: SPG11

Linked Data

• ClinVar Variation Id: 569104
• ClinVar RCV Id: RCV000689647
• dbSNP Id: rs529595414
• ExAC: 15:44891026 T / C
• gnomAD v2: 15-44891026-T-C
• gnomAD v3: 15-44598828-T-C
• gnomAD v4: 15-44598828-T-C
• MyVariant Identifiers: chr15:g.44891026T>C (hg19) ; chr15:g.44598828T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44598828T>C , CM000677.2:g.44598828T>C	GRCh38
NC_000015.9:g.44891026T>C , CM000677.1:g.44891026T>C	GRCh37
NC_000015.8:g.42678318T>C	NCBI36
NG_008885.1:g.69851A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.3695A>G	ENSP00000453246.2:p.Gln1232Arg
ENST00000682065.1:c.3695A>G	ENSP00000507025.1:p.Gln1232Arg
ENST00000682460.1:c.*115A>G	ENSP00000508334.1:n.*115A>G
ENST00000682495.1:c.*187A>G	ENSP00000507166.1:n.*187A>G
ENST00000682669.1:c.3494A>G	ENSP00000507782.1:p.Gln1165Arg
ENST00000682788.1:c.3695A>G	ENSP00000508089.1:p.Gln1232Arg
ENST00000682915.1:c.3788A>G	ENSP00000507493.1:n.3788A>G
ENST00000683121.1:c.3695A>G	ENSP00000507557.1:p.Gln1232Arg
ENST00000683186.1:c.*458A>G	ENSP00000507268.1:n.*458A>G
ENST00000683496.1:c.3695A>G	ENSP00000506968.1:p.Gln1232Arg
ENST00000683734.1:c.3695A>G	ENSP00000508319.1:p.Gln1232Arg
ENST00000683753.1:n.2741A>G
ENST00000683838.1:n.769A>G
ENST00000684038.1:c.*115A>G	ENSP00000507141.1:n.*115A>G
ENST00000684235.1:c.3695A>G	ENSP00000508295.1:p.Gln1232Arg
ENST00000684676.1:c.3695A>G	ENSP00000506948.1:p.Gln1232Arg
ENST00000261866.12:c.3695A>G MANE Select	ENSP00000261866.7:p.Gln1232Arg
ENST00000261866.11:c.3695A>G	ENSP00000261866.7:p.Gln1232Arg
ENST00000427534.6:c.3695A>G	ENSP00000396110.2:p.Gln1232Arg
ENST00000535302.6:c.3695A>G	ENSP00000445278.2:p.Gln1232Arg
ENST00000558093.1:n.309A>G
ENST00000558319.5:c.3695A>G	ENSP00000453599.1:p.Gln1232Arg
NM_001160227.1:c.3695A>G	NP_001153699.1:p.Gln1232Arg
NM_025137.3:c.3695A>G	NP_079413.3:p.Gln1232Arg
XM_005254695.3:c.3437A>G	XP_005254752.1:p.Gln1146Arg
XM_006720700.1:c.3695A>G	XP_006720763.1:p.Gln1232Arg
XM_006720701.2:c.3695A>G	XP_006720764.1:p.Gln1232Arg
XM_011522093.1:c.3687-455A>G	XP_011520395.1:n.3687-455A>G
XR_931917.1:n.3726A>G
XM_006720701.3:c.3695A>G	XP_006720764.1:p.Gln1232Arg
XM_017022634.1:c.3695A>G	XP_016878123.1:p.Gln1232Arg
XM_017022635.2:c.3695A>G	XP_016878124.1:p.Gln1232Arg
XM_017022636.1:c.572A>G	XP_016878125.1:p.Gln191Arg
XR_001751402.1:n.3718-455A>G
XR_931917.2:n.3726A>G
NM_025137.4:c.3695A>G MANE Select	NP_079413.3:p.Gln1232Arg
NM_001160227.2:c.3695A>G	NP_001153699.1:p.Gln1232Arg