Canonical Allele Identifier: CA392222559

Gene: SPG11

Linked Data

• dbSNP Id: rs1334299225
• gnomAD v2: 15-44876447-G-A
• gnomAD v4: 15-44584249-G-A
• MyVariant Identifiers: chr15:g.44876447G>A (hg19) ; chr15:g.44584249G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584249G>A , CM000677.2:g.44584249G>A	GRCh38
NC_000015.9:g.44876447G>A , CM000677.1:g.44876447G>A	GRCh37
NC_000015.8:g.42663739G>A	NCBI36
NG_008885.1:g.84430C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5431C>T	ENSP00000453246.2:p.Leu1811Phe
ENST00000561391.2:n.1659C>T
ENST00000682065.1:c.5287C>T	ENSP00000507025.1:p.Leu1763Phe
ENST00000682460.1:c.*1688C>T	ENSP00000508334.1:n.*1688C>T
ENST00000682495.1:c.*1923C>T	ENSP00000507166.1:n.*1923C>T
ENST00000682669.1:c.5230C>T	ENSP00000507782.1:p.Leu1744Phe
ENST00000683186.1:c.*2194C>T	ENSP00000507268.1:n.*2194C>T
ENST00000683496.1:c.5431C>T	ENSP00000506968.1:p.Leu1811Phe
ENST00000683734.1:c.5431C>T	ENSP00000508319.1:p.Leu1811Phe
ENST00000683753.1:n.4477C>T
ENST00000684038.1:c.*1851C>T	ENSP00000507141.1:n.*1851C>T
ENST00000684235.1:c.5431C>T	ENSP00000508295.1:p.Leu1811Phe
ENST00000684676.1:c.5431C>T	ENSP00000506948.1:p.Leu1811Phe
ENST00000261866.12:c.5431C>T MANE Select	ENSP00000261866.7:p.Leu1811Phe
ENST00000261866.11:c.5431C>T	ENSP00000261866.7:p.Leu1811Phe
ENST00000427534.6:c.5431C>T	ENSP00000396110.2:p.Leu1811Phe
ENST00000535302.6:c.5431C>T	ENSP00000445278.2:p.Leu1811Phe
ENST00000558319.5:c.5431C>T	ENSP00000453599.1:p.Leu1811Phe
ENST00000559511.5:c.279C>T
ENST00000559822.1:c.203C>T
NM_001160227.1:c.5431C>T	NP_001153699.1:p.Leu1811Phe
NM_025137.3:c.5431C>T	NP_079413.3:p.Leu1811Phe
XM_005254695.3:c.5173C>T	XP_005254752.1:p.Leu1725Phe
XM_006720700.1:c.5287C>T	XP_006720763.1:p.Leu1763Phe
XM_017022634.1:c.5431C>T	XP_016878123.1:p.Leu1811Phe
XM_017022636.1:c.2308C>T	XP_016878125.1:p.Leu770Phe
NM_025137.4:c.5431C>T MANE Select	NP_079413.3:p.Leu1811Phe
NM_001160227.2:c.5431C>T	NP_001153699.1:p.Leu1811Phe