Canonical Allele Identifier: CA392222607

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44876470A>T (hg19) ; chr15:g.44584272A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584272A>T , CM000677.2:g.44584272A>T	GRCh38
NC_000015.9:g.44876470A>T , CM000677.1:g.44876470A>T	GRCh37
NC_000015.8:g.42663762A>T	NCBI36
NG_008885.1:g.84407T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5408T>A	ENSP00000453246.2:p.Leu1803Gln
ENST00000561391.2:n.1636T>A
ENST00000682065.1:c.5264T>A	ENSP00000507025.1:p.Leu1755Gln
ENST00000682460.1:c.*1665T>A	ENSP00000508334.1:n.*1665T>A
ENST00000682495.1:c.*1900T>A	ENSP00000507166.1:n.*1900T>A
ENST00000682669.1:c.5207T>A	ENSP00000507782.1:p.Leu1736Gln
ENST00000683186.1:c.*2171T>A	ENSP00000507268.1:n.*2171T>A
ENST00000683496.1:c.5408T>A	ENSP00000506968.1:p.Leu1803Gln
ENST00000683734.1:c.5408T>A	ENSP00000508319.1:p.Leu1803Gln
ENST00000683753.1:n.4454T>A
ENST00000684038.1:c.*1828T>A	ENSP00000507141.1:n.*1828T>A
ENST00000684235.1:c.5408T>A	ENSP00000508295.1:p.Leu1803Gln
ENST00000684676.1:c.5408T>A	ENSP00000506948.1:p.Leu1803Gln
ENST00000261866.12:c.5408T>A MANE Select	ENSP00000261866.7:p.Leu1803Gln
ENST00000261866.11:c.5408T>A	ENSP00000261866.7:p.Leu1803Gln
ENST00000427534.6:c.5408T>A	ENSP00000396110.2:p.Leu1803Gln
ENST00000535302.6:c.5408T>A	ENSP00000445278.2:p.Leu1803Gln
ENST00000558319.5:c.5408T>A	ENSP00000453599.1:p.Leu1803Gln
ENST00000558790.5:n.845T>A
ENST00000559511.5:c.256T>A
ENST00000559822.1:c.180T>A
NM_001160227.1:c.5408T>A	NP_001153699.1:p.Leu1803Gln
NM_025137.3:c.5408T>A	NP_079413.3:p.Leu1803Gln
XM_005254695.3:c.5150T>A	XP_005254752.1:p.Leu1717Gln
XM_006720700.1:c.5264T>A	XP_006720763.1:p.Leu1755Gln
XM_017022634.1:c.5408T>A	XP_016878123.1:p.Leu1803Gln
XM_017022636.1:c.2285T>A	XP_016878125.1:p.Leu762Gln
XR_931917.2:n.5462T>A
NM_025137.4:c.5408T>A MANE Select	NP_079413.3:p.Leu1803Gln
NM_001160227.2:c.5408T>A	NP_001153699.1:p.Leu1803Gln