Canonical Allele Identifier: CA392216257

Gene: SPG11

Linked Data

• gnomAD v4: 15-44570538-T-A
• MyVariant Identifiers: chr15:g.44862736T>A (hg19) ; chr15:g.44570538T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570538T>A , CM000677.2:g.44570538T>A	GRCh38
NC_000015.9:g.44862736T>A , CM000677.1:g.44862736T>A	GRCh37
NC_000015.8:g.42650028T>A	NCBI36
NG_008885.1:g.98141A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.263A>T	ENSP00000453314.2:p.Glu88Val
ENST00000559511.6:c.5987A>T	ENSP00000453246.2:p.Glu1996Val
ENST00000682065.1:c.6320A>T	ENSP00000507025.1:p.Glu2107Val
ENST00000682460.1:c.*2721A>T	ENSP00000508334.1:n.*2721A>T
ENST00000682495.1:c.*2956A>T	ENSP00000507166.1:n.*2956A>T
ENST00000682669.1:c.6263A>T	ENSP00000507782.1:p.Glu2088Val
ENST00000683186.1:c.*3227A>T	ENSP00000507268.1:n.*3227A>T
ENST00000683496.1:c.*106A>T	ENSP00000506968.1:n.*106A>T
ENST00000683734.1:c.*414A>T	ENSP00000508319.1:n.*414A>T
ENST00000683753.1:n.5510A>T
ENST00000684038.1:c.*2884A>T	ENSP00000507141.1:n.*2884A>T
ENST00000684235.1:c.6464A>T	ENSP00000508295.1:p.Glu2155Val
ENST00000261866.12:c.6464A>T MANE Select	ENSP00000261866.7:p.Glu2155Val
ENST00000261866.11:c.6464A>T	ENSP00000261866.7:p.Glu2155Val
ENST00000427534.6:c.6464A>T	ENSP00000396110.2:p.Glu2155Val
ENST00000535302.6:c.6125A>T	ENSP00000445278.2:p.Glu2042Val
ENST00000558138.1:c.263A>T	ENSP00000453314.1:p.Glu88Val
ENST00000559347.1:n.293A>T
ENST00000559511.5:c.835A>T
ENST00000561268.5:n.275+2145A>T
NM_001160227.1:c.6125A>T	NP_001153699.1:p.Glu2042Val
NM_025137.3:c.6464A>T	NP_079413.3:p.Glu2155Val
XM_005254695.3:c.6206A>T	XP_005254752.1:p.Glu2069Val
XM_006720700.1:c.6320A>T	XP_006720763.1:p.Glu2107Val
XM_017022634.1:c.6464A>T	XP_016878123.1:p.Glu2155Val
XM_017022636.1:c.3341A>T	XP_016878125.1:p.Glu1114Val
NM_025137.4:c.6464A>T MANE Select	NP_079413.3:p.Glu2155Val
NM_001160227.2:c.6125A>T	NP_001153699.1:p.Glu2042Val