Canonical Allele Identifier: CA490329334

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44865767C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573569C>T , CM000677.2:g.44573569C>T	GRCh38
NC_000015.9:g.44865767C>T , CM000677.1:g.44865767C>T	GRCh37
NC_000015.8:g.42653059C>T	NCBI36
NG_008885.1:g.95110G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-2911G>A	ENSP00000453246.2:n.5867-2911G>A
ENST00000561391.2:n.2411G>A
ENST00000682065.1:c.6039G>A	ENSP00000507025.1:p.Leu2013=
ENST00000682460.1:c.*2440G>A	ENSP00000508334.1:n.*2440G>A
ENST00000682495.1:c.*2675G>A	ENSP00000507166.1:n.*2675G>A
ENST00000682669.1:c.5982G>A	ENSP00000507782.1:p.Leu1994=
ENST00000683186.1:c.*2946G>A	ENSP00000507268.1:n.*2946G>A
ENST00000683496.1:c.6006+1333G>A	ENSP00000506968.1:n.6006+1333G>A
ENST00000683734.1:c.*133G>A	ENSP00000508319.1:n.*133G>A
ENST00000683753.1:n.5229G>A
ENST00000684038.1:c.*2603G>A	ENSP00000507141.1:n.*2603G>A
ENST00000684235.1:c.6183G>A	ENSP00000508295.1:p.Leu2061=
ENST00000684676.1:c.*332G>A	ENSP00000506948.1:n.*332G>A
ENST00000261866.12:c.6183G>A MANE Select	ENSP00000261866.7:p.Leu2061=
ENST00000261866.11:c.6183G>A	ENSP00000261866.7:p.Leu2061=
ENST00000427534.6:c.6183G>A	ENSP00000396110.2:p.Leu2061=
ENST00000535302.6:c.5867-749G>A	ENSP00000445278.2:n.5867-749G>A
ENST00000558080.1:n.548G>A
ENST00000558319.5:c.6183G>A	ENSP00000453599.1:p.Leu2061=
ENST00000559511.5:c.715-2911G>A
ENST00000559933.1:n.252G>A
ENST00000561268.5:n.115G>A
NM_001160227.1:c.5867-749G>A	NP_001153699.1:n.5867-749G>A
NM_025137.3:c.6183G>A	NP_079413.3:p.Leu2061=
XM_005254695.3:c.5925G>A	XP_005254752.1:p.Leu1975=
XM_006720700.1:c.6039G>A	XP_006720763.1:p.Leu2013=
XM_017022634.1:c.6183G>A	XP_016878123.1:p.Leu2061=
XM_017022636.1:c.3060G>A	XP_016878125.1:p.Leu1020=
NM_025137.4:c.6183G>A MANE Select	NP_079413.3:p.Leu2061=
NM_001160227.2:c.5867-749G>A	NP_001153699.1:n.5867-749G>A