Canonical Allele Identifier: CA392216374

Gene: SPG11

Linked Data

• gnomAD v4: 15-44570596-T-A
• MyVariant Identifiers: chr15:g.44862794T>A (hg19) ; chr15:g.44570596T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570596T>A , CM000677.2:g.44570596T>A	GRCh38
NC_000015.9:g.44862794T>A , CM000677.1:g.44862794T>A	GRCh37
NC_000015.8:g.42650086T>A	NCBI36
NG_008885.1:g.98083A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.205A>T	ENSP00000453314.2:p.Ile69Phe
ENST00000559511.6:c.5929A>T	ENSP00000453246.2:p.Ile1977Phe
ENST00000682065.1:c.6262A>T	ENSP00000507025.1:p.Ile2088Phe
ENST00000682460.1:c.*2663A>T	ENSP00000508334.1:n.*2663A>T
ENST00000682495.1:c.*2898A>T	ENSP00000507166.1:n.*2898A>T
ENST00000682669.1:c.6205A>T	ENSP00000507782.1:p.Ile2069Phe
ENST00000683186.1:c.*3169A>T	ENSP00000507268.1:n.*3169A>T
ENST00000683496.1:c.*48A>T	ENSP00000506968.1:n.*48A>T
ENST00000683734.1:c.*356A>T	ENSP00000508319.1:n.*356A>T
ENST00000683753.1:n.5452A>T
ENST00000684038.1:c.*2826A>T	ENSP00000507141.1:n.*2826A>T
ENST00000684235.1:c.6406A>T	ENSP00000508295.1:p.Ile2136Phe
ENST00000261866.12:c.6406A>T MANE Select	ENSP00000261866.7:p.Ile2136Phe
ENST00000261866.11:c.6406A>T	ENSP00000261866.7:p.Ile2136Phe
ENST00000427534.6:c.6406A>T	ENSP00000396110.2:p.Ile2136Phe
ENST00000535302.6:c.6067A>T	ENSP00000445278.2:p.Ile2023Phe
ENST00000558138.1:c.205A>T	ENSP00000453314.1:p.Ile69Phe
ENST00000559347.1:n.235A>T
ENST00000559511.5:c.777A>T
ENST00000559933.1:n.475A>T
ENST00000561268.5:n.275+2087A>T
NM_001160227.1:c.6067A>T	NP_001153699.1:p.Ile2023Phe
NM_025137.3:c.6406A>T	NP_079413.3:p.Ile2136Phe
XM_005254695.3:c.6148A>T	XP_005254752.1:p.Ile2050Phe
XM_006720700.1:c.6262A>T	XP_006720763.1:p.Ile2088Phe
XM_017022634.1:c.6406A>T	XP_016878123.1:p.Ile2136Phe
XM_017022636.1:c.3283A>T	XP_016878125.1:p.Ile1095Phe
NM_025137.4:c.6406A>T MANE Select	NP_079413.3:p.Ile2136Phe
NM_001160227.2:c.6067A>T	NP_001153699.1:p.Ile2023Phe