Canonical Allele Identifier: CA392222952

Gene: SPG11

Linked Data

• dbSNP Id: rs1177368234
• gnomAD v2: 15-44876625-A-T
• gnomAD v4: 15-44584427-A-T
• MyVariant Identifiers: chr15:g.44876625A>T (hg19) ; chr15:g.44584427A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584427A>T , CM000677.2:g.44584427A>T	GRCh38
NC_000015.9:g.44876625A>T , CM000677.1:g.44876625A>T	GRCh37
NC_000015.8:g.42663917A>T	NCBI36
NG_008885.1:g.84252T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5253T>A	ENSP00000453246.2:p.Phe1751Leu
ENST00000561391.2:n.1481T>A
ENST00000682065.1:c.5122-13T>A	ENSP00000507025.1:n.5122-13T>A
ENST00000682460.1:c.*1510T>A	ENSP00000508334.1:n.*1510T>A
ENST00000682495.1:c.*1745T>A	ENSP00000507166.1:n.*1745T>A
ENST00000682669.1:c.5052T>A	ENSP00000507782.1:p.Phe1684Leu
ENST00000683186.1:c.*2016T>A	ENSP00000507268.1:n.*2016T>A
ENST00000683496.1:c.5253T>A	ENSP00000506968.1:p.Phe1751Leu
ENST00000683734.1:c.5253T>A	ENSP00000508319.1:p.Phe1751Leu
ENST00000683753.1:n.4299T>A
ENST00000684038.1:c.*1673T>A	ENSP00000507141.1:n.*1673T>A
ENST00000684235.1:c.5253T>A	ENSP00000508295.1:p.Phe1751Leu
ENST00000684676.1:c.5253T>A	ENSP00000506948.1:p.Phe1751Leu
ENST00000261866.12:c.5253T>A MANE Select	ENSP00000261866.7:p.Phe1751Leu
ENST00000261866.11:c.5253T>A	ENSP00000261866.7:p.Phe1751Leu
ENST00000427534.6:c.5253T>A	ENSP00000396110.2:p.Phe1751Leu
ENST00000535302.6:c.5253T>A	ENSP00000445278.2:p.Phe1751Leu
ENST00000558319.5:c.5253T>A	ENSP00000453599.1:p.Phe1751Leu
ENST00000558790.5:n.690T>A
ENST00000559511.5:c.101T>A
ENST00000559822.1:c.25T>A
NM_001160227.1:c.5253T>A	NP_001153699.1:p.Phe1751Leu
NM_025137.3:c.5253T>A	NP_079413.3:p.Phe1751Leu
XM_005254695.3:c.4995T>A	XP_005254752.1:p.Phe1665Leu
XM_006720700.1:c.5122-13T>A	XP_006720763.1:n.5122-13T>A
XM_017022634.1:c.5253T>A	XP_016878123.1:p.Phe1751Leu
XM_017022636.1:c.2130T>A	XP_016878125.1:p.Phe710Leu
XR_931917.2:n.5307T>A
NM_025137.4:c.5253T>A MANE Select	NP_079413.3:p.Phe1751Leu
NM_001160227.2:c.5253T>A	NP_001153699.1:p.Phe1751Leu