Canonical Allele Identifier: CA392222923

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44876612C>G (hg19) ; chr15:g.44584414C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584414C>G , CM000677.2:g.44584414C>G	GRCh38
NC_000015.9:g.44876612C>G , CM000677.1:g.44876612C>G	GRCh37
NC_000015.8:g.42663904C>G	NCBI36
NG_008885.1:g.84265G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5266G>C	ENSP00000453246.2:p.Ala1756Pro
ENST00000561391.2:n.1494G>C
ENST00000682065.1:c.5122G>C	ENSP00000507025.1:p.Ala1708Pro
ENST00000682460.1:c.*1523G>C	ENSP00000508334.1:n.*1523G>C
ENST00000682495.1:c.*1758G>C	ENSP00000507166.1:n.*1758G>C
ENST00000682669.1:c.5065G>C	ENSP00000507782.1:p.Ala1689Pro
ENST00000683186.1:c.*2029G>C	ENSP00000507268.1:n.*2029G>C
ENST00000683496.1:c.5266G>C	ENSP00000506968.1:p.Ala1756Pro
ENST00000683734.1:c.5266G>C	ENSP00000508319.1:p.Ala1756Pro
ENST00000683753.1:n.4312G>C
ENST00000684038.1:c.*1686G>C	ENSP00000507141.1:n.*1686G>C
ENST00000684235.1:c.5266G>C	ENSP00000508295.1:p.Ala1756Pro
ENST00000684676.1:c.5266G>C	ENSP00000506948.1:p.Ala1756Pro
ENST00000261866.12:c.5266G>C MANE Select	ENSP00000261866.7:p.Ala1756Pro
ENST00000261866.11:c.5266G>C	ENSP00000261866.7:p.Ala1756Pro
ENST00000427534.6:c.5266G>C	ENSP00000396110.2:p.Ala1756Pro
ENST00000535302.6:c.5266G>C	ENSP00000445278.2:p.Ala1756Pro
ENST00000558319.5:c.5266G>C	ENSP00000453599.1:p.Ala1756Pro
ENST00000558790.5:n.703G>C
ENST00000559511.5:c.114G>C
ENST00000559822.1:c.38G>C
NM_001160227.1:c.5266G>C	NP_001153699.1:p.Ala1756Pro
NM_025137.3:c.5266G>C	NP_079413.3:p.Ala1756Pro
XM_005254695.3:c.5008G>C	XP_005254752.1:p.Ala1670Pro
XM_006720700.1:c.5122G>C	XP_006720763.1:p.Ala1708Pro
XM_017022634.1:c.5266G>C	XP_016878123.1:p.Ala1756Pro
XM_017022636.1:c.2143G>C	XP_016878125.1:p.Ala715Pro
XR_931917.2:n.5320G>C
NM_025137.4:c.5266G>C MANE Select	NP_079413.3:p.Ala1756Pro
NM_001160227.2:c.5266G>C	NP_001153699.1:p.Ala1756Pro