Canonical Allele Identifier: CA392212793

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44564642G>T , CM000677.2:g.44564642G>T	GRCh38
NC_000015.9:g.44856840G>T , CM000677.1:g.44856840G>T	GRCh37
NC_000015.8:g.42644132G>T	NCBI36
NG_008885.1:g.104037C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.7056C>A MANE Select	NP_079413.3:p.Tyr2352Ter
ENST00000261866.12:c.7056C>A MANE Select	ENSP00000261866.7:p.Tyr2352Ter
NM_001160227.1:c.6717C>A	NP_001153699.1:p.Tyr2239Ter
NM_001160227.2:c.6717C>A	NP_001153699.1:p.Tyr2239Ter
NM_025137.3:c.7056C>A	NP_079413.3:p.Tyr2352Ter
ENST00000261866.11:c.7056C>A	ENSP00000261866.7:p.Tyr2352Ter
ENST00000427534.6:c.6755-1341C>A	ENSP00000396110.2:n.6755-1341C>A
ENST00000535302.6:c.6717C>A	ENSP00000445278.2:p.Tyr2239Ter
ENST00000558138.1:c.747C>A	ENSP00000453314.1:p.Tyr249Ter
ENST00000558138.2:c.747C>A	ENSP00000453314.2:p.Tyr249Ter
ENST00000559511.5:c.1427C>A
ENST00000559511.6:c.6579C>A	ENSP00000453246.2:p.Tyr2193Ter
ENST00000560299.1:n.348C>A
ENST00000682065.1:c.6912C>A	ENSP00000507025.1:p.Tyr2304Ter
ENST00000682460.1:c.*3313C>A	ENSP00000508334.1:n.*3313C>A
ENST00000682495.1:c.*3548C>A	ENSP00000507166.1:n.*3548C>A
ENST00000682669.1:c.6855C>A	ENSP00000507782.1:p.Tyr2285Ter
ENST00000683186.1:c.*3819C>A	ENSP00000507268.1:n.*3819C>A
ENST00000683496.1:c.*698C>A	ENSP00000506968.1:n.*698C>A
ENST00000683734.1:c.*1006C>A	ENSP00000508319.1:n.*1006C>A
ENST00000683753.1:n.6102C>A
ENST00000684038.1:c.*3476C>A	ENSP00000507141.1:n.*3476C>A
ENST00000684235.1:c.7056C>A	ENSP00000508295.1:p.Tyr2352Ter
XM_005254695.3:c.6798C>A	XP_005254752.1:p.Tyr2266Ter
XM_006720700.1:c.6912C>A	XP_006720763.1:p.Tyr2304Ter
XM_017022634.1:c.6948C>A	XP_016878123.1:p.Tyr2316Ter
XM_017022636.1:c.3933C>A	XP_016878125.1:p.Tyr1311Ter