Canonical Allele Identifier: CA392218663

Gene: SPG11

Linked Data

• COSMIC: COSM962120 ; COSM4871639
• MyVariant Identifiers: chr15:g.44867134C>T (hg19) ; chr15:g.44574936C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574936C>T , CM000677.2:g.44574936C>T	GRCh38
NC_000015.9:g.44867134C>T , CM000677.1:g.44867134C>T	GRCh37
NC_000015.8:g.42654426C>T	NCBI36
NG_008885.1:g.93743G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4278G>A	ENSP00000453246.2:n.5867-4278G>A
ENST00000561391.2:n.2200G>A
ENST00000682065.1:c.5828G>A	ENSP00000507025.1:p.Cys1943Tyr
ENST00000682460.1:c.*2229G>A	ENSP00000508334.1:n.*2229G>A
ENST00000682495.1:c.*2464G>A	ENSP00000507166.1:n.*2464G>A
ENST00000682669.1:c.5771G>A	ENSP00000507782.1:p.Cys1924Tyr
ENST00000683186.1:c.*2735G>A	ENSP00000507268.1:n.*2735G>A
ENST00000683496.1:c.5972G>A	ENSP00000506968.1:p.Cys1991Tyr
ENST00000683734.1:c.5867-1191G>A	ENSP00000508319.1:n.5867-1191G>A
ENST00000683753.1:n.5018G>A
ENST00000684038.1:c.*2392G>A	ENSP00000507141.1:n.*2392G>A
ENST00000684235.1:c.5972G>A	ENSP00000508295.1:p.Cys1991Tyr
ENST00000684676.1:c.*121G>A	ENSP00000506948.1:n.*121G>A
ENST00000261866.12:c.5972G>A MANE Select	ENSP00000261866.7:p.Cys1991Tyr
ENST00000261866.11:c.5972G>A	ENSP00000261866.7:p.Cys1991Tyr
ENST00000427534.6:c.5972G>A	ENSP00000396110.2:p.Cys1991Tyr
ENST00000535302.6:c.5867-2116G>A	ENSP00000445278.2:n.5867-2116G>A
ENST00000558080.1:n.337G>A
ENST00000558319.5:c.5972G>A	ENSP00000453599.1:p.Cys1991Tyr
ENST00000559511.5:c.715-4278G>A
ENST00000559822.1:c.515G>A
NM_001160227.1:c.5867-2116G>A	NP_001153699.1:n.5867-2116G>A
NM_025137.3:c.5972G>A	NP_079413.3:p.Cys1991Tyr
XM_005254695.3:c.5714G>A	XP_005254752.1:p.Cys1905Tyr
XM_006720700.1:c.5828G>A	XP_006720763.1:p.Cys1943Tyr
XM_017022634.1:c.5972G>A	XP_016878123.1:p.Cys1991Tyr
XM_017022636.1:c.2849G>A	XP_016878125.1:p.Cys950Tyr
NM_025137.4:c.5972G>A MANE Select	NP_079413.3:p.Cys1991Tyr
NM_001160227.2:c.5867-2116G>A	NP_001153699.1:n.5867-2116G>A