Canonical Allele Identifier: CA490203090
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 3014645
ClinVar RCV Id: RCV003878268
MyVariant Identifiers: chr15:g.44862762T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44570564T>C , CM000677.2:g.44570564T>C GRCh38
NC_000015.9:g.44862762T>C , CM000677.1:g.44862762T>C GRCh37
NC_000015.8:g.42650054T>C NCBI36
NG_008885.1:g.98115A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000558138.2:c.237A>G ENSP00000453314.2:p.Thr79=
ENST00000559511.6:c.5961A>G ENSP00000453246.2:p.Thr1987=
ENST00000682065.1:c.6294A>G ENSP00000507025.1:p.Thr2098=
ENST00000682460.1:c.*2695A>G ENSP00000508334.1:n.*2695A>G
ENST00000682495.1:c.*2930A>G ENSP00000507166.1:n.*2930A>G
ENST00000682669.1:c.6237A>G ENSP00000507782.1:p.Thr2079=
ENST00000683186.1:c.*3201A>G ENSP00000507268.1:n.*3201A>G
ENST00000683496.1:c.*80A>G ENSP00000506968.1:n.*80A>G
ENST00000683734.1:c.*388A>G ENSP00000508319.1:n.*388A>G
ENST00000683753.1:n.5484A>G
ENST00000684038.1:c.*2858A>G ENSP00000507141.1:n.*2858A>G
ENST00000684235.1:c.6438A>G ENSP00000508295.1:p.Thr2146=
ENST00000261866.12:c.6438A>G MANE Select ENSP00000261866.7:p.Thr2146=
ENST00000261866.11:c.6438A>G ENSP00000261866.7:p.Thr2146=
ENST00000427534.6:c.6438A>G ENSP00000396110.2:p.Thr2146=
ENST00000535302.6:c.6099A>G ENSP00000445278.2:p.Thr2033=
ENST00000558138.1:c.237A>G ENSP00000453314.1:p.Thr79=
ENST00000559347.1:n.267A>G
ENST00000559511.5:c.809A>G
ENST00000559933.1:n.507A>G
ENST00000561268.5:n.275+2119A>G
NM_001160227.1:c.6099A>G NP_001153699.1:p.Thr2033=
NM_025137.3:c.6438A>G NP_079413.3:p.Thr2146=
XM_005254695.3:c.6180A>G XP_005254752.1:p.Thr2060=
XM_006720700.1:c.6294A>G XP_006720763.1:p.Thr2098=
XM_017022634.1:c.6438A>G XP_016878123.1:p.Thr2146=
XM_017022636.1:c.3315A>G XP_016878125.1:p.Thr1105=
NM_025137.4:c.6438A>G MANE Select NP_079413.3:p.Thr2146=
NM_001160227.2:c.6099A>G NP_001153699.1:p.Thr2033=