Canonical Allele Identifier: CA490203188

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862843C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570645C>T , CM000677.2:g.44570645C>T	GRCh38
NC_000015.9:g.44862843C>T , CM000677.1:g.44862843C>T	GRCh37
NC_000015.8:g.42650135C>T	NCBI36
NG_008885.1:g.98034G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.156G>A	ENSP00000453314.2:p.Leu52=
ENST00000559511.6:c.5880G>A	ENSP00000453246.2:p.Leu1960=
ENST00000682065.1:c.6213G>A	ENSP00000507025.1:p.Leu2071=
ENST00000682460.1:c.*2614G>A	ENSP00000508334.1:n.*2614G>A
ENST00000682495.1:c.*2849G>A	ENSP00000507166.1:n.*2849G>A
ENST00000682669.1:c.6156G>A	ENSP00000507782.1:p.Leu2052=
ENST00000683186.1:c.*3120G>A	ENSP00000507268.1:n.*3120G>A
ENST00000683496.1:c.6014G>A	ENSP00000506968.1:p.Ter2005=
ENST00000683734.1:c.*307G>A	ENSP00000508319.1:n.*307G>A
ENST00000683753.1:n.5403G>A
ENST00000684038.1:c.*2777G>A	ENSP00000507141.1:n.*2777G>A
ENST00000684235.1:c.6357G>A	ENSP00000508295.1:p.Leu2119=
ENST00000261866.12:c.6357G>A MANE Select	ENSP00000261866.7:p.Leu2119=
ENST00000261866.11:c.6357G>A	ENSP00000261866.7:p.Leu2119=
ENST00000427534.6:c.6357G>A	ENSP00000396110.2:p.Leu2119=
ENST00000535302.6:c.6018G>A	ENSP00000445278.2:p.Leu2006=
ENST00000558138.1:c.156G>A	ENSP00000453314.1:p.Leu52=
ENST00000559347.1:n.186G>A
ENST00000559511.5:c.728G>A
ENST00000559933.1:n.426G>A
ENST00000561268.5:n.275+2038G>A
NM_001160227.1:c.6018G>A	NP_001153699.1:p.Leu2006=
NM_025137.3:c.6357G>A	NP_079413.3:p.Leu2119=
XM_005254695.3:c.6099G>A	XP_005254752.1:p.Leu2033=
XM_006720700.1:c.6213G>A	XP_006720763.1:p.Leu2071=
XM_017022634.1:c.6357G>A	XP_016878123.1:p.Leu2119=
XM_017022636.1:c.3234G>A	XP_016878125.1:p.Leu1078=
NM_025137.4:c.6357G>A MANE Select	NP_079413.3:p.Leu2119=
NM_001160227.2:c.6018G>A	NP_001153699.1:p.Leu2006=