Canonical Allele Identifier: CA490207761

Gene: SPG11

Linked Data

• dbSNP Id: rs2083105150
• gnomAD v4: 15-44598641-T-C
• MyVariant Identifiers: chr15:g.44890839T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44598641T>C , CM000677.2:g.44598641T>C	GRCh38
NC_000015.9:g.44890839T>C , CM000677.1:g.44890839T>C	GRCh37
NC_000015.8:g.42678131T>C	NCBI36
NG_008885.1:g.70038A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559511.6:c.3882A>G	ENSP00000453246.2:p.Arg1294=
ENST00000682065.1:c.3882A>G	ENSP00000507025.1:p.Arg1294=
ENST00000682460.1:c.*302A>G	ENSP00000508334.1:n.*302A>G
ENST00000682495.1:c.*374A>G	ENSP00000507166.1:n.*374A>G
ENST00000682669.1:c.3681A>G	ENSP00000507782.1:p.Arg1227=
ENST00000682788.1:c.3882A>G	ENSP00000508089.1:p.Arg1294=
ENST00000682915.1:c.3975A>G	ENSP00000507493.1:n.3975A>G
ENST00000683121.1:c.3882A>G	ENSP00000507557.1:p.Arg1294=
ENST00000683186.1:c.*645A>G	ENSP00000507268.1:n.*645A>G
ENST00000683496.1:c.3882A>G	ENSP00000506968.1:p.Arg1294=
ENST00000683734.1:c.3882A>G	ENSP00000508319.1:p.Arg1294=
ENST00000683753.1:n.2928A>G
ENST00000683838.1:n.956A>G
ENST00000684038.1:c.*302A>G	ENSP00000507141.1:n.*302A>G
ENST00000684235.1:c.3882A>G	ENSP00000508295.1:p.Arg1294=
ENST00000684676.1:c.3882A>G	ENSP00000506948.1:p.Arg1294=
ENST00000261866.12:c.3882A>G MANE Select	ENSP00000261866.7:p.Arg1294=
ENST00000261866.11:c.3882A>G	ENSP00000261866.7:p.Arg1294=
ENST00000427534.6:c.3882A>G	ENSP00000396110.2:p.Arg1294=
ENST00000535302.6:c.3882A>G	ENSP00000445278.2:p.Arg1294=
ENST00000558093.1:n.496A>G
ENST00000558319.5:c.3882A>G	ENSP00000453599.1:p.Arg1294=
ENST00000558561.1:n.39A>G
NM_001160227.1:c.3882A>G	NP_001153699.1:p.Arg1294=
NM_025137.3:c.3882A>G	NP_079413.3:p.Arg1294=
XM_005254695.3:c.3624A>G	XP_005254752.1:p.Arg1208=
XM_006720700.1:c.3882A>G	XP_006720763.1:p.Arg1294=
XM_006720701.2:c.3882A>G	XP_006720764.1:p.Arg1294=
XM_011522093.1:c.3687-268A>G	XP_011520395.1:n.3687-268A>G
XR_931917.1:n.3913A>G
XM_006720701.3:c.3882A>G	XP_006720764.1:p.Arg1294=
XM_017022634.1:c.3882A>G	XP_016878123.1:p.Arg1294=
XM_017022635.2:c.3882A>G	XP_016878124.1:p.Arg1294=
XM_017022636.1:c.759A>G	XP_016878125.1:p.Arg253=
XR_001751402.1:n.3718-268A>G
XR_931917.2:n.3913A>G
NM_025137.4:c.3882A>G MANE Select	NP_079413.3:p.Arg1294=
NM_001160227.2:c.3882A>G	NP_001153699.1:p.Arg1294=