Canonical Allele Identifier: CA490203096

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862765G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570567G>T , CM000677.2:g.44570567G>T	GRCh38
NC_000015.9:g.44862765G>T , CM000677.1:g.44862765G>T	GRCh37
NC_000015.8:g.42650057G>T	NCBI36
NG_008885.1:g.98112C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.234C>A	ENSP00000453314.2:p.Leu78=
ENST00000559511.6:c.5958C>A	ENSP00000453246.2:p.Leu1986=
ENST00000682065.1:c.6291C>A	ENSP00000507025.1:p.Leu2097=
ENST00000682460.1:c.*2692C>A	ENSP00000508334.1:n.*2692C>A
ENST00000682495.1:c.*2927C>A	ENSP00000507166.1:n.*2927C>A
ENST00000682669.1:c.6234C>A	ENSP00000507782.1:p.Leu2078=
ENST00000683186.1:c.*3198C>A	ENSP00000507268.1:n.*3198C>A
ENST00000683496.1:c.*77C>A	ENSP00000506968.1:n.*77C>A
ENST00000683734.1:c.*385C>A	ENSP00000508319.1:n.*385C>A
ENST00000683753.1:n.5481C>A
ENST00000684038.1:c.*2855C>A	ENSP00000507141.1:n.*2855C>A
ENST00000684235.1:c.6435C>A	ENSP00000508295.1:p.Leu2145=
ENST00000261866.12:c.6435C>A MANE Select	ENSP00000261866.7:p.Leu2145=
ENST00000261866.11:c.6435C>A	ENSP00000261866.7:p.Leu2145=
ENST00000427534.6:c.6435C>A	ENSP00000396110.2:p.Leu2145=
ENST00000535302.6:c.6096C>A	ENSP00000445278.2:p.Leu2032=
ENST00000558138.1:c.234C>A	ENSP00000453314.1:p.Leu78=
ENST00000559347.1:n.264C>A
ENST00000559511.5:c.806C>A
ENST00000559933.1:n.504C>A
ENST00000561268.5:n.275+2116C>A
NM_001160227.1:c.6096C>A	NP_001153699.1:p.Leu2032=
NM_025137.3:c.6435C>A	NP_079413.3:p.Leu2145=
XM_005254695.3:c.6177C>A	XP_005254752.1:p.Leu2059=
XM_006720700.1:c.6291C>A	XP_006720763.1:p.Leu2097=
XM_017022634.1:c.6435C>A	XP_016878123.1:p.Leu2145=
XM_017022636.1:c.3312C>A	XP_016878125.1:p.Leu1104=
NM_025137.4:c.6435C>A MANE Select	NP_079413.3:p.Leu2145=
NM_001160227.2:c.6096C>A	NP_001153699.1:p.Leu2032=