Canonical Allele Identifier: CA2173689476
Community Standard Title: NM_025137.4(SPG11):c.6157G= (p.Val2053=)
Gene: SPG11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44573595C= , CM000677.2:g.44573595C= GRCh38
NC_000015.9:g.44865793C= , CM000677.1:g.44865793C= GRCh37
NC_000015.8:g.42653085C= NCBI36
NG_008885.1:g.95084G=

Transcript Alleles

HGVS Amino-acid Change
NM_025137.4:c.6157G= MANE Select NP_079413.3:p.Val2053=
ENST00000261866.12:c.6157G= MANE Select ENSP00000261866.7:p.Val2053=
NM_001160227.1:c.5867-775G= NP_001153699.1:n.5867-775G=
NM_001160227.2:c.5867-775G= NP_001153699.1:n.5867-775G=
NM_025137.3:c.6157G= NP_079413.3:p.Val2053=
ENST00000261866.11:c.6157G= ENSP00000261866.7:p.Val2053=
ENST00000427534.6:c.6157G= ENSP00000396110.2:p.Val2053=
ENST00000535302.6:c.5867-775G= ENSP00000445278.2:n.5867-775G=
ENST00000558080.1:n.522G=
ENST00000558319.5:c.6157G= ENSP00000453599.1:p.Val2053=
ENST00000559511.5:c.715-2937G=
ENST00000559511.6:c.5867-2937G= ENSP00000453246.2:n.5867-2937G=
ENST00000559933.1:n.226G=
ENST00000561268.5:n.89G=
ENST00000561391.2:n.2385G=
ENST00000682065.1:c.6013G= ENSP00000507025.1:p.Val2005=
ENST00000682460.1:c.*2414G= ENSP00000508334.1:n.*2414G=
ENST00000682495.1:c.*2649G= ENSP00000507166.1:n.*2649G=
ENST00000682669.1:c.5956G= ENSP00000507782.1:p.Val1986=
ENST00000683186.1:c.*2920G= ENSP00000507268.1:n.*2920G=
ENST00000683496.1:c.6006+1307G= ENSP00000506968.1:n.6006+1307G=
ENST00000683734.1:c.*107G= ENSP00000508319.1:n.*107G=
ENST00000683753.1:n.5203G=
ENST00000684038.1:c.*2577G= ENSP00000507141.1:n.*2577G=
ENST00000684235.1:c.6157G= ENSP00000508295.1:p.Val2053=
ENST00000684676.1:c.*306G= ENSP00000506948.1:n.*306G=
XM_005254695.3:c.5899G= XP_005254752.1:p.Val1967=
XM_006720700.1:c.6013G= XP_006720763.1:p.Val2005=
XM_017022634.1:c.6157G= XP_016878123.1:p.Val2053=
XM_017022636.1:c.3034G= XP_016878125.1:p.Val1012=