Canonical Allele Identifier: CA392213948

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44858499G>T (hg19) ; chr15:g.44566301G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44566301G>T , CM000677.2:g.44566301G>T	GRCh38
NC_000015.9:g.44858499G>T , CM000677.1:g.44858499G>T	GRCh37
NC_000015.8:g.42645791G>T	NCBI36
NG_008885.1:g.102378C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.450C>A	ENSP00000453314.2:p.Asp150Glu
ENST00000559511.6:c.6282C>A	ENSP00000453246.2:p.Asp2094Glu
ENST00000682065.1:c.6615C>A	ENSP00000507025.1:p.Asp2205Glu
ENST00000682460.1:c.*3016C>A	ENSP00000508334.1:n.*3016C>A
ENST00000682495.1:c.*3251C>A	ENSP00000507166.1:n.*3251C>A
ENST00000682669.1:c.6558C>A	ENSP00000507782.1:p.Asp2186Glu
ENST00000683186.1:c.*3522C>A	ENSP00000507268.1:n.*3522C>A
ENST00000683496.1:c.*401C>A	ENSP00000506968.1:n.*401C>A
ENST00000683734.1:c.*709C>A	ENSP00000508319.1:n.*709C>A
ENST00000683753.1:n.5805C>A
ENST00000684038.1:c.*3179C>A	ENSP00000507141.1:n.*3179C>A
ENST00000684235.1:c.6759C>A	ENSP00000508295.1:p.Asp2253Glu
ENST00000261866.12:c.6759C>A MANE Select	ENSP00000261866.7:p.Asp2253Glu
ENST00000261866.11:c.6759C>A	ENSP00000261866.7:p.Asp2253Glu
ENST00000427534.6:c.6754+1123C>A	ENSP00000396110.2:n.6754+1123C>A
ENST00000535302.6:c.6420C>A	ENSP00000445278.2:p.Asp2140Glu
ENST00000558138.1:c.450C>A	ENSP00000453314.1:p.Asp150Glu
ENST00000559347.1:n.588C>A
ENST00000559511.5:c.1130C>A
NM_001160227.1:c.6420C>A	NP_001153699.1:p.Asp2140Glu
NM_025137.3:c.6759C>A	NP_079413.3:p.Asp2253Glu
XM_005254695.3:c.6501C>A	XP_005254752.1:p.Asp2167Glu
XM_006720700.1:c.6615C>A	XP_006720763.1:p.Asp2205Glu
XM_017022634.1:c.6651C>A	XP_016878123.1:p.Asp2217Glu
XM_017022636.1:c.3636C>A	XP_016878125.1:p.Asp1212Glu
NM_025137.4:c.6759C>A MANE Select	NP_079413.3:p.Asp2253Glu
NM_001160227.2:c.6420C>A	NP_001153699.1:p.Asp2140Glu