Canonical Allele Identifier: CA392222507
Gene: SPG11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44584227G>A , CM000677.2:g.44584227G>A GRCh38
NC_000015.9:g.44876425G>A , CM000677.1:g.44876425G>A GRCh37
NC_000015.8:g.42663717G>A NCBI36
NG_008885.1:g.84452C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.5453C>T ENSP00000453246.2:p.Thr1818Ile
ENST00000561391.2:n.1681C>T
ENST00000682065.1:c.5309C>T ENSP00000507025.1:p.Thr1770Ile
ENST00000682460.1:c.*1710C>T ENSP00000508334.1:n.*1710C>T
ENST00000682495.1:c.*1945C>T ENSP00000507166.1:n.*1945C>T
ENST00000682669.1:c.5252C>T ENSP00000507782.1:p.Thr1751Ile
ENST00000683186.1:c.*2216C>T ENSP00000507268.1:n.*2216C>T
ENST00000683496.1:c.5453C>T ENSP00000506968.1:p.Thr1818Ile
ENST00000683734.1:c.5453C>T ENSP00000508319.1:p.Thr1818Ile
ENST00000683753.1:n.4499C>T
ENST00000684038.1:c.*1873C>T ENSP00000507141.1:n.*1873C>T
ENST00000684235.1:c.5453C>T ENSP00000508295.1:p.Thr1818Ile
ENST00000684676.1:c.5453C>T ENSP00000506948.1:p.Thr1818Ile
ENST00000261866.12:c.5453C>T MANE Select ENSP00000261866.7:p.Thr1818Ile
ENST00000261866.11:c.5453C>T ENSP00000261866.7:p.Thr1818Ile
ENST00000427534.6:c.5453C>T ENSP00000396110.2:p.Thr1818Ile
ENST00000535302.6:c.5453C>T ENSP00000445278.2:p.Thr1818Ile
ENST00000558319.5:c.5453C>T ENSP00000453599.1:p.Thr1818Ile
ENST00000559511.5:c.301C>T
ENST00000559822.1:c.225C>T
NM_001160227.1:c.5453C>T NP_001153699.1:p.Thr1818Ile
NM_025137.3:c.5453C>T NP_079413.3:p.Thr1818Ile
XM_005254695.3:c.5195C>T XP_005254752.1:p.Thr1732Ile
XM_006720700.1:c.5309C>T XP_006720763.1:p.Thr1770Ile
XM_017022634.1:c.5453C>T XP_016878123.1:p.Thr1818Ile
XM_017022636.1:c.2330C>T XP_016878125.1:p.Thr777Ile
NM_025137.4:c.5453C>T MANE Select NP_079413.3:p.Thr1818Ile
NM_001160227.2:c.5453C>T NP_001153699.1:p.Thr1818Ile