Canonical Allele Identifier: CA490329305
Community Standard Title: NM_025137.4(SPG11):c.6204A>G (p.Thr2068=)
Gene: SPG11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44573548T>C , CM000677.2:g.44573548T>C GRCh38
NC_000015.9:g.44865746T>C , CM000677.1:g.44865746T>C GRCh37
NC_000015.8:g.42653038T>C NCBI36
NG_008885.1:g.95131A>G

Transcript Alleles

HGVS Amino-acid Change
NM_025137.4:c.6204A>G MANE Select NP_079413.3:p.Thr2068=
ENST00000261866.12:c.6204A>G MANE Select ENSP00000261866.7:p.Thr2068=
NM_001160227.1:c.5867-728A>G NP_001153699.1:n.5867-728A>G
NM_001160227.2:c.5867-728A>G NP_001153699.1:n.5867-728A>G
NM_025137.3:c.6204A>G NP_079413.3:p.Thr2068=
ENST00000261866.11:c.6204A>G ENSP00000261866.7:p.Thr2068=
ENST00000427534.6:c.6204A>G ENSP00000396110.2:p.Thr2068=
ENST00000535302.6:c.5867-728A>G ENSP00000445278.2:n.5867-728A>G
ENST00000558080.1:n.569A>G
ENST00000558319.5:c.6204A>G ENSP00000453599.1:p.Thr2068=
ENST00000559511.5:c.715-2890A>G
ENST00000559511.6:c.5867-2890A>G ENSP00000453246.2:n.5867-2890A>G
ENST00000559933.1:n.273A>G
ENST00000561268.5:n.136A>G
ENST00000561391.2:n.2432A>G
ENST00000682065.1:c.6060A>G ENSP00000507025.1:p.Thr2020=
ENST00000682460.1:c.*2461A>G ENSP00000508334.1:n.*2461A>G
ENST00000682495.1:c.*2696A>G ENSP00000507166.1:n.*2696A>G
ENST00000682669.1:c.6003A>G ENSP00000507782.1:p.Thr2001=
ENST00000683186.1:c.*2967A>G ENSP00000507268.1:n.*2967A>G
ENST00000683496.1:c.6006+1354A>G ENSP00000506968.1:n.6006+1354A>G
ENST00000683734.1:c.*154A>G ENSP00000508319.1:n.*154A>G
ENST00000683753.1:n.5250A>G
ENST00000684038.1:c.*2624A>G ENSP00000507141.1:n.*2624A>G
ENST00000684235.1:c.6204A>G ENSP00000508295.1:p.Thr2068=
ENST00000684676.1:c.*353A>G ENSP00000506948.1:n.*353A>G
XM_005254695.3:c.5946A>G XP_005254752.1:p.Thr1982=
XM_006720700.1:c.6060A>G XP_006720763.1:p.Thr2020=
XM_017022634.1:c.6204A>G XP_016878123.1:p.Thr2068=
XM_017022636.1:c.3081A>G XP_016878125.1:p.Thr1027=