Canonical Allele Identifier: CA392216307

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862760T>A (hg19) ; chr15:g.44570562T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570562T>A , CM000677.2:g.44570562T>A	GRCh38
NC_000015.9:g.44862760T>A , CM000677.1:g.44862760T>A	GRCh37
NC_000015.8:g.42650052T>A	NCBI36
NG_008885.1:g.98117A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.239A>T	ENSP00000453314.2:p.Asp80Val
ENST00000559511.6:c.5963A>T	ENSP00000453246.2:p.Asp1988Val
ENST00000682065.1:c.6296A>T	ENSP00000507025.1:p.Asp2099Val
ENST00000682460.1:c.*2697A>T	ENSP00000508334.1:n.*2697A>T
ENST00000682495.1:c.*2932A>T	ENSP00000507166.1:n.*2932A>T
ENST00000682669.1:c.6239A>T	ENSP00000507782.1:p.Asp2080Val
ENST00000683186.1:c.*3203A>T	ENSP00000507268.1:n.*3203A>T
ENST00000683496.1:c.*82A>T	ENSP00000506968.1:n.*82A>T
ENST00000683734.1:c.*390A>T	ENSP00000508319.1:n.*390A>T
ENST00000683753.1:n.5486A>T
ENST00000684038.1:c.*2860A>T	ENSP00000507141.1:n.*2860A>T
ENST00000684235.1:c.6440A>T	ENSP00000508295.1:p.Asp2147Val
ENST00000261866.12:c.6440A>T MANE Select	ENSP00000261866.7:p.Asp2147Val
ENST00000261866.11:c.6440A>T	ENSP00000261866.7:p.Asp2147Val
ENST00000427534.6:c.6440A>T	ENSP00000396110.2:p.Asp2147Val
ENST00000535302.6:c.6101A>T	ENSP00000445278.2:p.Asp2034Val
ENST00000558138.1:c.239A>T	ENSP00000453314.1:p.Asp80Val
ENST00000559347.1:n.269A>T
ENST00000559511.5:c.811A>T
ENST00000559933.1:n.509A>T
ENST00000561268.5:n.275+2121A>T
NM_001160227.1:c.6101A>T	NP_001153699.1:p.Asp2034Val
NM_025137.3:c.6440A>T	NP_079413.3:p.Asp2147Val
XM_005254695.3:c.6182A>T	XP_005254752.1:p.Asp2061Val
XM_006720700.1:c.6296A>T	XP_006720763.1:p.Asp2099Val
XM_017022634.1:c.6440A>T	XP_016878123.1:p.Asp2147Val
XM_017022636.1:c.3317A>T	XP_016878125.1:p.Asp1106Val
NM_025137.4:c.6440A>T MANE Select	NP_079413.3:p.Asp2147Val
NM_001160227.2:c.6101A>T	NP_001153699.1:p.Asp2034Val