Canonical Allele Identifier: CA392216246

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862731C>G (hg19) ; chr15:g.44570533C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570533C>G , CM000677.2:g.44570533C>G	GRCh38
NC_000015.9:g.44862731C>G , CM000677.1:g.44862731C>G	GRCh37
NC_000015.8:g.42650023C>G	NCBI36
NG_008885.1:g.98146G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.268G>C	ENSP00000453314.2:p.Gly90Arg
ENST00000559511.6:c.5992G>C	ENSP00000453246.2:p.Gly1998Arg
ENST00000682065.1:c.6325G>C	ENSP00000507025.1:p.Gly2109Arg
ENST00000682460.1:c.*2726G>C	ENSP00000508334.1:n.*2726G>C
ENST00000682495.1:c.*2961G>C	ENSP00000507166.1:n.*2961G>C
ENST00000682669.1:c.6268G>C	ENSP00000507782.1:p.Gly2090Arg
ENST00000683186.1:c.*3232G>C	ENSP00000507268.1:n.*3232G>C
ENST00000683496.1:c.*111G>C	ENSP00000506968.1:n.*111G>C
ENST00000683734.1:c.*419G>C	ENSP00000508319.1:n.*419G>C
ENST00000683753.1:n.5515G>C
ENST00000684038.1:c.*2889G>C	ENSP00000507141.1:n.*2889G>C
ENST00000684235.1:c.6469G>C	ENSP00000508295.1:p.Gly2157Arg
ENST00000261866.12:c.6469G>C MANE Select	ENSP00000261866.7:p.Gly2157Arg
ENST00000261866.11:c.6469G>C	ENSP00000261866.7:p.Gly2157Arg
ENST00000427534.6:c.6469G>C	ENSP00000396110.2:p.Gly2157Arg
ENST00000535302.6:c.6130G>C	ENSP00000445278.2:p.Gly2044Arg
ENST00000558138.1:c.268G>C	ENSP00000453314.1:p.Gly90Arg
ENST00000559347.1:n.298G>C
ENST00000559511.5:c.840G>C
ENST00000561268.5:n.275+2150G>C
NM_001160227.1:c.6130G>C	NP_001153699.1:p.Gly2044Arg
NM_025137.3:c.6469G>C	NP_079413.3:p.Gly2157Arg
XM_005254695.3:c.6211G>C	XP_005254752.1:p.Gly2071Arg
XM_006720700.1:c.6325G>C	XP_006720763.1:p.Gly2109Arg
XM_017022634.1:c.6469G>C	XP_016878123.1:p.Gly2157Arg
XM_017022636.1:c.3346G>C	XP_016878125.1:p.Gly1116Arg
NM_025137.4:c.6469G>C MANE Select	NP_079413.3:p.Gly2157Arg
NM_001160227.2:c.6130G>C	NP_001153699.1:p.Gly2044Arg