Canonical Allele Identifier: CA392216260

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862737C>A (hg19) ; chr15:g.44570539C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570539C>A , CM000677.2:g.44570539C>A	GRCh38
NC_000015.9:g.44862737C>A , CM000677.1:g.44862737C>A	GRCh37
NC_000015.8:g.42650029C>A	NCBI36
NG_008885.1:g.98140G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.262G>T	ENSP00000453314.2:p.Glu88Ter
ENST00000559511.6:c.5986G>T	ENSP00000453246.2:p.Glu1996Ter
ENST00000682065.1:c.6319G>T	ENSP00000507025.1:p.Glu2107Ter
ENST00000682460.1:c.*2720G>T	ENSP00000508334.1:n.*2720G>T
ENST00000682495.1:c.*2955G>T	ENSP00000507166.1:n.*2955G>T
ENST00000682669.1:c.6262G>T	ENSP00000507782.1:p.Glu2088Ter
ENST00000683186.1:c.*3226G>T	ENSP00000507268.1:n.*3226G>T
ENST00000683496.1:c.*105G>T	ENSP00000506968.1:n.*105G>T
ENST00000683734.1:c.*413G>T	ENSP00000508319.1:n.*413G>T
ENST00000683753.1:n.5509G>T
ENST00000684038.1:c.*2883G>T	ENSP00000507141.1:n.*2883G>T
ENST00000684235.1:c.6463G>T	ENSP00000508295.1:p.Glu2155Ter
ENST00000261866.12:c.6463G>T MANE Select	ENSP00000261866.7:p.Glu2155Ter
ENST00000261866.11:c.6463G>T	ENSP00000261866.7:p.Glu2155Ter
ENST00000427534.6:c.6463G>T	ENSP00000396110.2:p.Glu2155Ter
ENST00000535302.6:c.6124G>T	ENSP00000445278.2:p.Glu2042Ter
ENST00000558138.1:c.262G>T	ENSP00000453314.1:p.Glu88Ter
ENST00000559347.1:n.292G>T
ENST00000559511.5:c.834G>T
ENST00000561268.5:n.275+2144G>T
NM_001160227.1:c.6124G>T	NP_001153699.1:p.Glu2042Ter
NM_025137.3:c.6463G>T	NP_079413.3:p.Glu2155Ter
XM_005254695.3:c.6205G>T	XP_005254752.1:p.Glu2069Ter
XM_006720700.1:c.6319G>T	XP_006720763.1:p.Glu2107Ter
XM_017022634.1:c.6463G>T	XP_016878123.1:p.Glu2155Ter
XM_017022636.1:c.3340G>T	XP_016878125.1:p.Glu1114Ter
NM_025137.4:c.6463G>T MANE Select	NP_079413.3:p.Glu2155Ter
NM_001160227.2:c.6124G>T	NP_001153699.1:p.Glu2042Ter