Canonical Allele Identifier: CA7534616
Community Standard Title: NM_025137.4(SPG11):c.4674G>C (p.Leu1558=)
Gene: SPG11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44592400C>G , CM000677.2:g.44592400C>G GRCh38
NC_000015.9:g.44884598C>G , CM000677.1:g.44884598C>G GRCh37
NC_000015.8:g.42671890C>G NCBI36
NG_008885.1:g.76279G>C

Transcript Alleles

HGVS Amino-acid Change
NM_025137.4:c.4674G>C MANE Select NP_079413.3:p.Leu1558=
ENST00000261866.12:c.4674G>C MANE Select ENSP00000261866.7:p.Leu1558=
NM_001160227.1:c.4674G>C NP_001153699.1:p.Leu1558=
NM_001160227.2:c.4674G>C NP_001153699.1:p.Leu1558=
NM_025137.3:c.4674G>C NP_079413.3:p.Leu1558=
ENST00000261866.11:c.4674G>C ENSP00000261866.7:p.Leu1558=
ENST00000427534.6:c.4674G>C ENSP00000396110.2:p.Leu1558=
ENST00000535302.6:c.4674G>C ENSP00000445278.2:p.Leu1558=
ENST00000558155.1:c.326G>C ENSP00000453238.1:n.326G>C
ENST00000558319.5:c.4674G>C ENSP00000453599.1:p.Leu1558=
ENST00000559511.6:c.4674G>C ENSP00000453246.2:p.Leu1558=
ENST00000560858.1:c.54G>C ENSP00000452991.1:p.Leu18=
ENST00000561391.2:n.902G>C
ENST00000682065.1:c.4674G>C ENSP00000507025.1:p.Leu1558=
ENST00000682460.1:c.*1094G>C ENSP00000508334.1:n.*1094G>C
ENST00000682495.1:c.*1166G>C ENSP00000507166.1:n.*1166G>C
ENST00000682669.1:c.4473G>C ENSP00000507782.1:p.Leu1491=
ENST00000682788.1:c.4674G>C ENSP00000508089.1:p.Leu1558=
ENST00000683121.1:c.*17G>C ENSP00000507557.1:n.*17G>C
ENST00000683186.1:c.*1437G>C ENSP00000507268.1:n.*1437G>C
ENST00000683496.1:c.4674G>C ENSP00000506968.1:p.Leu1558=
ENST00000683734.1:c.4674G>C ENSP00000508319.1:p.Leu1558=
ENST00000683753.1:n.3720G>C
ENST00000684038.1:c.*1094G>C ENSP00000507141.1:n.*1094G>C
ENST00000684235.1:c.4674G>C ENSP00000508295.1:p.Leu1558=
ENST00000684676.1:c.4674G>C ENSP00000506948.1:p.Leu1558=
XM_005254695.3:c.4416G>C XP_005254752.1:p.Leu1472=
XM_006720700.1:c.4674G>C XP_006720763.1:p.Leu1558=
XM_006720701.2:c.4674G>C XP_006720764.1:p.Leu1558=
XM_006720701.3:c.4674G>C XP_006720764.1:p.Leu1558=
XM_017022634.1:c.4674G>C XP_016878123.1:p.Leu1558=
XM_017022635.2:c.4674G>C XP_016878124.1:p.Leu1558=
XM_017022636.1:c.1551G>C XP_016878125.1:p.Leu517=
XR_931917.1:n.4728G>C
XR_931917.2:n.4728G>C