Canonical Allele Identifier: CA392230734

Gene: SPG11

Linked Data

• ClinVar Variation Id: 466515
• ClinVar RCV Id: RCV000539735
• dbSNP Id: rs1555455246
• COSMIC: COSM1749168 ; COSM1749169
• MyVariant Identifiers: chr15:g.44912485G>A (hg19) ; chr15:g.44620287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44620287G>A , CM000677.2:g.44620287G>A	GRCh38
NC_000015.9:g.44912485G>A , CM000677.1:g.44912485G>A	GRCh37
NC_000015.8:g.42699777G>A	NCBI36
NG_008885.1:g.48392C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.2737C>T	ENSP00000453246.2:p.Gln913Ter
ENST00000682065.1:c.2737C>T	ENSP00000507025.1:p.Gln913Ter
ENST00000682460.1:c.2737C>T	ENSP00000508334.1:p.Gln913Ter
ENST00000682495.1:c.2737C>T	ENSP00000507166.1:p.Gln913Ter
ENST00000682669.1:c.2737C>T	ENSP00000507782.1:p.Gln913Ter
ENST00000682788.1:c.2737C>T	ENSP00000508089.1:p.Gln913Ter
ENST00000682915.1:c.2737C>T	ENSP00000507493.1:p.Gln913Ter
ENST00000683121.1:c.2737C>T	ENSP00000507557.1:p.Gln913Ter
ENST00000683186.1:c.2737C>T	ENSP00000507268.1:p.Gln913Ter
ENST00000683255.1:c.2737C>T	ENSP00000508340.1:p.Gln913Ter
ENST00000683496.1:c.2737C>T	ENSP00000506968.1:p.Gln913Ter
ENST00000683573.1:c.2737C>T	ENSP00000508031.1:p.Gln913Ter
ENST00000683734.1:c.2737C>T	ENSP00000508319.1:p.Gln913Ter
ENST00000683753.1:n.1861C>T
ENST00000684038.1:c.2479C>T	ENSP00000507141.1:p.Gln827Ter
ENST00000684235.1:c.2737C>T	ENSP00000508295.1:p.Gln913Ter
ENST00000684676.1:c.2737C>T	ENSP00000506948.1:p.Gln913Ter
ENST00000261866.12:c.2737C>T MANE Select	ENSP00000261866.7:p.Gln913Ter
ENST00000261866.11:c.2737C>T	ENSP00000261866.7:p.Gln913Ter
ENST00000427534.6:c.2737C>T	ENSP00000396110.2:p.Gln913Ter
ENST00000535302.6:c.2737C>T	ENSP00000445278.2:p.Gln913Ter
ENST00000558319.5:c.2737C>T	ENSP00000453599.1:p.Gln913Ter
ENST00000558989.1:n.1580C>T
ENST00000560435.1:c.19C>T	ENSP00000452629.1:p.Gln7Ter
NM_001160227.1:c.2737C>T	NP_001153699.1:p.Gln913Ter
NM_025137.3:c.2737C>T	NP_079413.3:p.Gln913Ter
XM_005254695.3:c.2479C>T	XP_005254752.1:p.Gln827Ter
XM_006720700.1:c.2737C>T	XP_006720763.1:p.Gln913Ter
XM_006720701.2:c.2737C>T	XP_006720764.1:p.Gln913Ter
XM_011522093.1:c.2737C>T	XP_011520395.1:p.Gln913Ter
XR_931917.1:n.2768C>T
XM_006720701.3:c.2737C>T	XP_006720764.1:p.Gln913Ter
XM_017022634.1:c.2737C>T	XP_016878123.1:p.Gln913Ter
XM_017022635.2:c.2737C>T	XP_016878124.1:p.Gln913Ter
XM_017022636.1:c.-280C>T	XP_016878125.1:n.-280C>T
XR_001751402.1:n.2768C>T
XR_931917.2:n.2768C>T
NM_025137.4:c.2737C>T MANE Select	NP_079413.3:p.Gln913Ter
NM_001160227.2:c.2737C>T	NP_001153699.1:p.Gln913Ter