Canonical Allele Identifier: CA392216443

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862825G>T (hg19) ; chr15:g.44570627G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570627G>T , CM000677.2:g.44570627G>T	GRCh38
NC_000015.9:g.44862825G>T , CM000677.1:g.44862825G>T	GRCh37
NC_000015.8:g.42650117G>T	NCBI36
NG_008885.1:g.98052C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.174C>A	ENSP00000453314.2:p.Cys58Ter
ENST00000559511.6:c.5898C>A	ENSP00000453246.2:p.Cys1966Ter
ENST00000682065.1:c.6231C>A	ENSP00000507025.1:p.Cys2077Ter
ENST00000682460.1:c.*2632C>A	ENSP00000508334.1:n.*2632C>A
ENST00000682495.1:c.*2867C>A	ENSP00000507166.1:n.*2867C>A
ENST00000682669.1:c.6174C>A	ENSP00000507782.1:p.Cys2058Ter
ENST00000683186.1:c.*3138C>A	ENSP00000507268.1:n.*3138C>A
ENST00000683496.1:c.*17C>A	ENSP00000506968.1:n.*17C>A
ENST00000683734.1:c.*325C>A	ENSP00000508319.1:n.*325C>A
ENST00000683753.1:n.5421C>A
ENST00000684038.1:c.*2795C>A	ENSP00000507141.1:n.*2795C>A
ENST00000684235.1:c.6375C>A	ENSP00000508295.1:p.Cys2125Ter
ENST00000261866.12:c.6375C>A MANE Select	ENSP00000261866.7:p.Cys2125Ter
ENST00000261866.11:c.6375C>A	ENSP00000261866.7:p.Cys2125Ter
ENST00000427534.6:c.6375C>A	ENSP00000396110.2:p.Cys2125Ter
ENST00000535302.6:c.6036C>A	ENSP00000445278.2:p.Cys2012Ter
ENST00000558138.1:c.174C>A	ENSP00000453314.1:p.Cys58Ter
ENST00000559347.1:n.204C>A
ENST00000559511.5:c.746C>A
ENST00000559933.1:n.444C>A
ENST00000561268.5:n.275+2056C>A
NM_001160227.1:c.6036C>A	NP_001153699.1:p.Cys2012Ter
NM_025137.3:c.6375C>A	NP_079413.3:p.Cys2125Ter
XM_005254695.3:c.6117C>A	XP_005254752.1:p.Cys2039Ter
XM_006720700.1:c.6231C>A	XP_006720763.1:p.Cys2077Ter
XM_017022634.1:c.6375C>A	XP_016878123.1:p.Cys2125Ter
XM_017022636.1:c.3252C>A	XP_016878125.1:p.Cys1084Ter
NM_025137.4:c.6375C>A MANE Select	NP_079413.3:p.Cys2125Ter
NM_001160227.2:c.6036C>A	NP_001153699.1:p.Cys2012Ter