Canonical Allele Identifier: CA392222460

Gene: SPG11

Linked Data

• dbSNP Id: rs1251056690
• gnomAD v2: 15-44876402-T-A
• gnomAD v4: 15-44584204-T-A
• MyVariant Identifiers: chr15:g.44876402T>A (hg19) ; chr15:g.44584204T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584204T>A , CM000677.2:g.44584204T>A	GRCh38
NC_000015.9:g.44876402T>A , CM000677.1:g.44876402T>A	GRCh37
NC_000015.8:g.42663694T>A	NCBI36
NG_008885.1:g.84475A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5476A>T	ENSP00000453246.2:p.Ile1826Phe
ENST00000561391.2:n.1704A>T
ENST00000682065.1:c.5332A>T	ENSP00000507025.1:p.Ile1778Phe
ENST00000682460.1:c.*1733A>T	ENSP00000508334.1:n.*1733A>T
ENST00000682495.1:c.*1968A>T	ENSP00000507166.1:n.*1968A>T
ENST00000682669.1:c.5275A>T	ENSP00000507782.1:p.Ile1759Phe
ENST00000683186.1:c.*2239A>T	ENSP00000507268.1:n.*2239A>T
ENST00000683496.1:c.5476A>T	ENSP00000506968.1:p.Ile1826Phe
ENST00000683734.1:c.5476A>T	ENSP00000508319.1:p.Ile1826Phe
ENST00000683753.1:n.4522A>T
ENST00000684038.1:c.*1896A>T	ENSP00000507141.1:n.*1896A>T
ENST00000684235.1:c.5476A>T	ENSP00000508295.1:p.Ile1826Phe
ENST00000684676.1:c.5476A>T	ENSP00000506948.1:p.Ile1826Phe
ENST00000261866.12:c.5476A>T MANE Select	ENSP00000261866.7:p.Ile1826Phe
ENST00000261866.11:c.5476A>T	ENSP00000261866.7:p.Ile1826Phe
ENST00000427534.6:c.5476A>T	ENSP00000396110.2:p.Ile1826Phe
ENST00000535302.6:c.5476A>T	ENSP00000445278.2:p.Ile1826Phe
ENST00000558319.5:c.5476A>T	ENSP00000453599.1:p.Ile1826Phe
ENST00000559511.5:c.324A>T
ENST00000559822.1:c.248A>T
NM_001160227.1:c.5476A>T	NP_001153699.1:p.Ile1826Phe
NM_025137.3:c.5476A>T	NP_079413.3:p.Ile1826Phe
XM_005254695.3:c.5218A>T	XP_005254752.1:p.Ile1740Phe
XM_006720700.1:c.5332A>T	XP_006720763.1:p.Ile1778Phe
XM_017022634.1:c.5476A>T	XP_016878123.1:p.Ile1826Phe
XM_017022636.1:c.2353A>T	XP_016878125.1:p.Ile785Phe
NM_025137.4:c.5476A>T MANE Select	NP_079413.3:p.Ile1826Phe
NM_001160227.2:c.5476A>T	NP_001153699.1:p.Ile1826Phe