Canonical Allele Identifier: CA392216387

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862800C>G (hg19) ; chr15:g.44570602C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570602C>G , CM000677.2:g.44570602C>G	GRCh38
NC_000015.9:g.44862800C>G , CM000677.1:g.44862800C>G	GRCh37
NC_000015.8:g.42650092C>G	NCBI36
NG_008885.1:g.98077G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.199G>C	ENSP00000453314.2:p.Gly67Arg
ENST00000559511.6:c.5923G>C	ENSP00000453246.2:p.Gly1975Arg
ENST00000682065.1:c.6256G>C	ENSP00000507025.1:p.Gly2086Arg
ENST00000682460.1:c.*2657G>C	ENSP00000508334.1:n.*2657G>C
ENST00000682495.1:c.*2892G>C	ENSP00000507166.1:n.*2892G>C
ENST00000682669.1:c.6199G>C	ENSP00000507782.1:p.Gly2067Arg
ENST00000683186.1:c.*3163G>C	ENSP00000507268.1:n.*3163G>C
ENST00000683496.1:c.*42G>C	ENSP00000506968.1:n.*42G>C
ENST00000683734.1:c.*350G>C	ENSP00000508319.1:n.*350G>C
ENST00000683753.1:n.5446G>C
ENST00000684038.1:c.*2820G>C	ENSP00000507141.1:n.*2820G>C
ENST00000684235.1:c.6400G>C	ENSP00000508295.1:p.Gly2134Arg
ENST00000261866.12:c.6400G>C MANE Select	ENSP00000261866.7:p.Gly2134Arg
ENST00000261866.11:c.6400G>C	ENSP00000261866.7:p.Gly2134Arg
ENST00000427534.6:c.6400G>C	ENSP00000396110.2:p.Gly2134Arg
ENST00000535302.6:c.6061G>C	ENSP00000445278.2:p.Gly2021Arg
ENST00000558138.1:c.199G>C	ENSP00000453314.1:p.Gly67Arg
ENST00000559347.1:n.229G>C
ENST00000559511.5:c.771G>C
ENST00000559933.1:n.469G>C
ENST00000561268.5:n.275+2081G>C
NM_001160227.1:c.6061G>C	NP_001153699.1:p.Gly2021Arg
NM_025137.3:c.6400G>C	NP_079413.3:p.Gly2134Arg
XM_005254695.3:c.6142G>C	XP_005254752.1:p.Gly2048Arg
XM_006720700.1:c.6256G>C	XP_006720763.1:p.Gly2086Arg
XM_017022634.1:c.6400G>C	XP_016878123.1:p.Gly2134Arg
XM_017022636.1:c.3277G>C	XP_016878125.1:p.Gly1093Arg
NM_025137.4:c.6400G>C MANE Select	NP_079413.3:p.Gly2134Arg
NM_001160227.2:c.6061G>C	NP_001153699.1:p.Gly2021Arg