Canonical Allele Identifier: CA392222922

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44876611G>T (hg19) ; chr15:g.44584413G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584413G>T , CM000677.2:g.44584413G>T	GRCh38
NC_000015.9:g.44876611G>T , CM000677.1:g.44876611G>T	GRCh37
NC_000015.8:g.42663903G>T	NCBI36
NG_008885.1:g.84266C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5267C>A	ENSP00000453246.2:p.Ala1756Asp
ENST00000561391.2:n.1495C>A
ENST00000682065.1:c.5123C>A	ENSP00000507025.1:p.Ala1708Asp
ENST00000682460.1:c.*1524C>A	ENSP00000508334.1:n.*1524C>A
ENST00000682495.1:c.*1759C>A	ENSP00000507166.1:n.*1759C>A
ENST00000682669.1:c.5066C>A	ENSP00000507782.1:p.Ala1689Asp
ENST00000683186.1:c.*2030C>A	ENSP00000507268.1:n.*2030C>A
ENST00000683496.1:c.5267C>A	ENSP00000506968.1:p.Ala1756Asp
ENST00000683734.1:c.5267C>A	ENSP00000508319.1:p.Ala1756Asp
ENST00000683753.1:n.4313C>A
ENST00000684038.1:c.*1687C>A	ENSP00000507141.1:n.*1687C>A
ENST00000684235.1:c.5267C>A	ENSP00000508295.1:p.Ala1756Asp
ENST00000684676.1:c.5267C>A	ENSP00000506948.1:p.Ala1756Asp
ENST00000261866.12:c.5267C>A MANE Select	ENSP00000261866.7:p.Ala1756Asp
ENST00000261866.11:c.5267C>A	ENSP00000261866.7:p.Ala1756Asp
ENST00000427534.6:c.5267C>A	ENSP00000396110.2:p.Ala1756Asp
ENST00000535302.6:c.5267C>A	ENSP00000445278.2:p.Ala1756Asp
ENST00000558319.5:c.5267C>A	ENSP00000453599.1:p.Ala1756Asp
ENST00000558790.5:n.704C>A
ENST00000559511.5:c.115C>A
ENST00000559822.1:c.39C>A
NM_001160227.1:c.5267C>A	NP_001153699.1:p.Ala1756Asp
NM_025137.3:c.5267C>A	NP_079413.3:p.Ala1756Asp
XM_005254695.3:c.5009C>A	XP_005254752.1:p.Ala1670Asp
XM_006720700.1:c.5123C>A	XP_006720763.1:p.Ala1708Asp
XM_017022634.1:c.5267C>A	XP_016878123.1:p.Ala1756Asp
XM_017022636.1:c.2144C>A	XP_016878125.1:p.Ala715Asp
XR_931917.2:n.5321C>A
NM_025137.4:c.5267C>A MANE Select	NP_079413.3:p.Ala1756Asp
NM_001160227.2:c.5267C>A	NP_001153699.1:p.Ala1756Asp