Canonical Allele Identifier: CA392216262

Gene: SPG11

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.262G>C	ENSP00000453314.2:p.Glu88Gln
ENST00000559511.6:c.5986G>C	ENSP00000453246.2:p.Glu1996Gln
ENST00000682065.1:c.6319G>C	ENSP00000507025.1:p.Glu2107Gln
ENST00000682460.1:c.*2720G>C	ENSP00000508334.1:n.*2720G>C
ENST00000682495.1:c.*2955G>C	ENSP00000507166.1:n.*2955G>C
ENST00000682669.1:c.6262G>C	ENSP00000507782.1:p.Glu2088Gln
ENST00000683186.1:c.*3226G>C	ENSP00000507268.1:n.*3226G>C
ENST00000683496.1:c.*105G>C	ENSP00000506968.1:n.*105G>C
ENST00000683734.1:c.*413G>C	ENSP00000508319.1:n.*413G>C
ENST00000683753.1:n.5509G>C
ENST00000684038.1:c.*2883G>C	ENSP00000507141.1:n.*2883G>C
ENST00000684235.1:c.6463G>C	ENSP00000508295.1:p.Glu2155Gln
ENST00000261866.12:c.6463G>C MANE Select	ENSP00000261866.7:p.Glu2155Gln
ENST00000261866.11:c.6463G>C	ENSP00000261866.7:p.Glu2155Gln
ENST00000427534.6:c.6463G>C	ENSP00000396110.2:p.Glu2155Gln
ENST00000535302.6:c.6124G>C	ENSP00000445278.2:p.Glu2042Gln
ENST00000558138.1:c.262G>C	ENSP00000453314.1:p.Glu88Gln
ENST00000559347.1:n.292G>C
ENST00000559511.5:c.834G>C
ENST00000561268.5:n.275+2144G>C
NM_001160227.1:c.6124G>C	NP_001153699.1:p.Glu2042Gln
NM_025137.3:c.6463G>C	NP_079413.3:p.Glu2155Gln
XM_005254695.3:c.6205G>C	XP_005254752.1:p.Glu2069Gln
XM_006720700.1:c.6319G>C	XP_006720763.1:p.Glu2107Gln
XM_017022634.1:c.6463G>C	XP_016878123.1:p.Glu2155Gln
XM_017022636.1:c.3340G>C	XP_016878125.1:p.Glu1114Gln
NM_025137.4:c.6463G>C MANE Select	NP_079413.3:p.Glu2155Gln
NM_001160227.2:c.6124G>C	NP_001153699.1:p.Glu2042Gln