Canonical Allele Identifier: CA392223339

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44585670G>C , CM000677.2:g.44585670G>C	GRCh38
NC_000015.9:g.44877868G>C , CM000677.1:g.44877868G>C	GRCh37
NC_000015.8:g.42665160G>C	NCBI36
NG_008885.1:g.83009C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.5087C>G MANE Select	NP_079413.3:p.Ala1696Gly
ENST00000261866.12:c.5087C>G MANE Select	ENSP00000261866.7:p.Ala1696Gly
NM_001160227.1:c.5087C>G	NP_001153699.1:p.Ala1696Gly
NM_001160227.2:c.5087C>G	NP_001153699.1:p.Ala1696Gly
NM_025137.3:c.5087C>G	NP_079413.3:p.Ala1696Gly
ENST00000261866.11:c.5087C>G	ENSP00000261866.7:p.Ala1696Gly
ENST00000427534.6:c.5087C>G	ENSP00000396110.2:p.Ala1696Gly
ENST00000535302.6:c.5087C>G	ENSP00000445278.2:p.Ala1696Gly
ENST00000558253.5:n.861C>G
ENST00000558319.5:c.5087C>G	ENSP00000453599.1:p.Ala1696Gly
ENST00000558790.5:n.524C>G
ENST00000559511.6:c.5087C>G	ENSP00000453246.2:p.Ala1696Gly
ENST00000561391.2:n.1315C>G
ENST00000682065.1:c.5087C>G	ENSP00000507025.1:p.Ala1696Gly
ENST00000682460.1:c.*1344C>G	ENSP00000508334.1:n.*1344C>G
ENST00000682495.1:c.*1579C>G	ENSP00000507166.1:n.*1579C>G
ENST00000682669.1:c.4886C>G	ENSP00000507782.1:p.Ala1629Gly
ENST00000683186.1:c.*1850C>G	ENSP00000507268.1:n.*1850C>G
ENST00000683496.1:c.5087C>G	ENSP00000506968.1:p.Ala1696Gly
ENST00000683734.1:c.5087C>G	ENSP00000508319.1:p.Ala1696Gly
ENST00000683753.1:n.4133C>G
ENST00000684038.1:c.*1507C>G	ENSP00000507141.1:n.*1507C>G
ENST00000684235.1:c.5087C>G	ENSP00000508295.1:p.Ala1696Gly
ENST00000684676.1:c.5087C>G	ENSP00000506948.1:p.Ala1696Gly
XM_005254695.3:c.4829C>G	XP_005254752.1:p.Ala1610Gly
XM_006720700.1:c.5087C>G	XP_006720763.1:p.Ala1696Gly
XM_017022634.1:c.5087C>G	XP_016878123.1:p.Ala1696Gly
XM_017022636.1:c.1964C>G	XP_016878125.1:p.Ala655Gly
XR_931917.2:n.5141C>G