Canonical Allele Identifier: CA2173712537

Gene: SPG11

Linked Data

• dbSNP Id: rs2083787952
• gnomAD v4: 15-44622725-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44622725T>C , CM000677.2:g.44622725T>C	GRCh38
NC_000015.9:g.44914923T>C , CM000677.1:g.44914923T>C	GRCh37
NC_000015.8:g.42702215T>C	NCBI36
NG_008885.1:g.45954A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559511.6:c.2316+3A>G	ENSP00000453246.2:n.2316+3A>G
ENST00000682065.1:c.2316+3A>G	ENSP00000507025.1:n.2316+3A>G
ENST00000682460.1:c.2316+3A>G	ENSP00000508334.1:n.2316+3A>G
ENST00000682495.1:c.2316+3A>G	ENSP00000507166.1:n.2316+3A>G
ENST00000682669.1:c.2316+3A>G	ENSP00000507782.1:n.2316+3A>G
ENST00000682788.1:c.2316+3A>G	ENSP00000508089.1:n.2316+3A>G
ENST00000682877.1:n.2350A>G
ENST00000682915.1:c.2316+3A>G	ENSP00000507493.1:n.2316+3A>G
ENST00000683121.1:c.2316+3A>G	ENSP00000507557.1:n.2316+3A>G
ENST00000683186.1:c.2316+3A>G	ENSP00000507268.1:n.2316+3A>G
ENST00000683255.1:c.2316+3A>G	ENSP00000508340.1:n.2316+3A>G
ENST00000683496.1:c.2316+3A>G	ENSP00000506968.1:n.2316+3A>G
ENST00000683573.1:c.2316+3A>G	ENSP00000508031.1:n.2316+3A>G
ENST00000683734.1:c.2316+3A>G	ENSP00000508319.1:n.2316+3A>G
ENST00000683753.1:n.1440+3A>G
ENST00000684038.1:c.2058+3A>G	ENSP00000507141.1:n.2058+3A>G
ENST00000684235.1:c.2316+3A>G	ENSP00000508295.1:n.2316+3A>G
ENST00000684676.1:c.2316+3A>G	ENSP00000506948.1:n.2316+3A>G
ENST00000261866.12:c.2316+3A>G MANE Select	ENSP00000261866.7:n.2316+3A>G
ENST00000261866.11:c.2316+3A>G	ENSP00000261866.7:n.2316+3A>G
ENST00000427534.6:c.2316+3A>G	ENSP00000396110.2:n.2316+3A>G
ENST00000535302.6:c.2316+3A>G	ENSP00000445278.2:n.2316+3A>G
ENST00000558319.5:c.2316+3A>G	ENSP00000453599.1:n.2316+3A>G
ENST00000559193.5:c.2319A>G	ENSP00000453848.1:p.Val773=
NM_001160227.1:c.2316+3A>G	NP_001153699.1:n.2316+3A>G
NM_025137.3:c.2316+3A>G	NP_079413.3:n.2316+3A>G
XM_005254695.3:c.2058+3A>G	XP_005254752.1:n.2058+3A>G
XM_006720700.1:c.2316+3A>G	XP_006720763.1:n.2316+3A>G
XM_006720701.2:c.2316+3A>G	XP_006720764.1:n.2316+3A>G
XM_011522093.1:c.2316+3A>G	XP_011520395.1:n.2316+3A>G
XR_931917.1:n.2347+3A>G
XM_006720701.3:c.2316+3A>G	XP_006720764.1:n.2316+3A>G
XM_017022634.1:c.2316+3A>G	XP_016878123.1:n.2316+3A>G
XM_017022635.2:c.2316+3A>G	XP_016878124.1:n.2316+3A>G
XM_017022636.1:c.-701+3A>G	XP_016878125.1:n.-701+3A>G
XR_001751402.1:n.2347+3A>G
XR_931917.2:n.2347+3A>G
NM_025137.4:c.2316+3A>G MANE Select	NP_079413.3:n.2316+3A>G
NM_001160227.2:c.2316+3A>G	NP_001153699.1:n.2316+3A>G