Canonical Allele Identifier: CA392216507

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862856G>C (hg19) ; chr15:g.44570658G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570658G>C , CM000677.2:g.44570658G>C	GRCh38
NC_000015.9:g.44862856G>C , CM000677.1:g.44862856G>C	GRCh37
NC_000015.8:g.42650148G>C	NCBI36
NG_008885.1:g.98021C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.143C>G	ENSP00000453314.2:p.Thr48Ser
ENST00000559511.6:c.5867C>G	ENSP00000453246.2:p.Thr1956Ser
ENST00000682065.1:c.6200C>G	ENSP00000507025.1:p.Thr2067Ser
ENST00000682460.1:c.*2601C>G	ENSP00000508334.1:n.*2601C>G
ENST00000682495.1:c.*2836C>G	ENSP00000507166.1:n.*2836C>G
ENST00000682669.1:c.6143C>G	ENSP00000507782.1:p.Thr2048Ser
ENST00000683186.1:c.*3107C>G	ENSP00000507268.1:n.*3107C>G
ENST00000683496.1:c.6007-6C>G	ENSP00000506968.1:n.6007-6C>G
ENST00000683734.1:c.*294C>G	ENSP00000508319.1:n.*294C>G
ENST00000683753.1:n.5390C>G
ENST00000684038.1:c.*2764C>G	ENSP00000507141.1:n.*2764C>G
ENST00000684235.1:c.6344C>G	ENSP00000508295.1:p.Thr2115Ser
ENST00000261866.12:c.6344C>G MANE Select	ENSP00000261866.7:p.Thr2115Ser
ENST00000261866.11:c.6344C>G	ENSP00000261866.7:p.Thr2115Ser
ENST00000427534.6:c.6344C>G	ENSP00000396110.2:p.Thr2115Ser
ENST00000535302.6:c.6005C>G	ENSP00000445278.2:p.Thr2002Ser
ENST00000558138.1:c.143C>G	ENSP00000453314.1:p.Thr48Ser
ENST00000559347.1:n.173C>G
ENST00000559511.5:c.715C>G
ENST00000559933.1:n.413C>G
ENST00000561268.5:n.275+2025C>G
NM_001160227.1:c.6005C>G	NP_001153699.1:p.Thr2002Ser
NM_025137.3:c.6344C>G	NP_079413.3:p.Thr2115Ser
XM_005254695.3:c.6086C>G	XP_005254752.1:p.Thr2029Ser
XM_006720700.1:c.6200C>G	XP_006720763.1:p.Thr2067Ser
XM_017022634.1:c.6344C>G	XP_016878123.1:p.Thr2115Ser
XM_017022636.1:c.3221C>G	XP_016878125.1:p.Thr1074Ser
NM_025137.4:c.6344C>G MANE Select	NP_079413.3:p.Thr2115Ser
NM_001160227.2:c.6005C>G	NP_001153699.1:p.Thr2002Ser