Canonical Allele Identifier: CA7534865

Gene: SPG11

Linked Data

• dbSNP Id: rs549436872
• ExAC: 15:44891034 C / T
• gnomAD v3: 15-44598836-C-T
• gnomAD v4: 15-44598836-C-T
• MyVariant Identifiers: chr15:g.44891034C>T (hg19) ; chr15:g.44598836C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44598836C>T , CM000677.2:g.44598836C>T	GRCh38
NC_000015.9:g.44891034C>T , CM000677.1:g.44891034C>T	GRCh37
NC_000015.8:g.42678326C>T	NCBI36
NG_008885.1:g.69843G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.3687G>A	ENSP00000453246.2:p.Leu1229=
ENST00000682065.1:c.3687G>A	ENSP00000507025.1:p.Leu1229=
ENST00000682460.1:c.*107G>A	ENSP00000508334.1:n.*107G>A
ENST00000682495.1:c.*179G>A	ENSP00000507166.1:n.*179G>A
ENST00000682669.1:c.3486G>A	ENSP00000507782.1:p.Leu1162=
ENST00000682788.1:c.3687G>A	ENSP00000508089.1:p.Leu1229=
ENST00000682915.1:c.3780G>A	ENSP00000507493.1:n.3780G>A
ENST00000683121.1:c.3687G>A	ENSP00000507557.1:p.Leu1229=
ENST00000683186.1:c.*450G>A	ENSP00000507268.1:n.*450G>A
ENST00000683496.1:c.3687G>A	ENSP00000506968.1:p.Leu1229=
ENST00000683734.1:c.3687G>A	ENSP00000508319.1:p.Leu1229=
ENST00000683753.1:n.2733G>A
ENST00000683838.1:n.761G>A
ENST00000684038.1:c.*107G>A	ENSP00000507141.1:n.*107G>A
ENST00000684235.1:c.3687G>A	ENSP00000508295.1:p.Leu1229=
ENST00000684676.1:c.3687G>A	ENSP00000506948.1:p.Leu1229=
ENST00000261866.12:c.3687G>A MANE Select	ENSP00000261866.7:p.Leu1229=
ENST00000261866.11:c.3687G>A	ENSP00000261866.7:p.Leu1229=
ENST00000427534.6:c.3687G>A	ENSP00000396110.2:p.Leu1229=
ENST00000535302.6:c.3687G>A	ENSP00000445278.2:p.Leu1229=
ENST00000558093.1:n.301G>A
ENST00000558319.5:c.3687G>A	ENSP00000453599.1:p.Leu1229=
NM_001160227.1:c.3687G>A	NP_001153699.1:p.Leu1229=
NM_025137.3:c.3687G>A	NP_079413.3:p.Leu1229=
XM_005254695.3:c.3429G>A	XP_005254752.1:p.Leu1143=
XM_006720700.1:c.3687G>A	XP_006720763.1:p.Leu1229=
XM_006720701.2:c.3687G>A	XP_006720764.1:p.Leu1229=
XM_011522093.1:c.3687-463G>A	XP_011520395.1:n.3687-463G>A
XR_931917.1:n.3718G>A
XM_006720701.3:c.3687G>A	XP_006720764.1:p.Leu1229=
XM_017022634.1:c.3687G>A	XP_016878123.1:p.Leu1229=
XM_017022635.2:c.3687G>A	XP_016878124.1:p.Leu1229=
XM_017022636.1:c.564G>A	XP_016878125.1:p.Leu188=
XR_001751402.1:n.3718-463G>A
XR_931917.2:n.3718G>A
NM_025137.4:c.3687G>A MANE Select	NP_079413.3:p.Leu1229=
NM_001160227.2:c.3687G>A	NP_001153699.1:p.Leu1229=