Canonical Allele Identifier: CA392216242

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862730C>G (hg19) ; chr15:g.44570532C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570532C>G , CM000677.2:g.44570532C>G	GRCh38
NC_000015.9:g.44862730C>G , CM000677.1:g.44862730C>G	GRCh37
NC_000015.8:g.42650022C>G	NCBI36
NG_008885.1:g.98147G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.269G>C	ENSP00000453314.2:p.Gly90Ala
ENST00000559511.6:c.5993G>C	ENSP00000453246.2:p.Gly1998Ala
ENST00000682065.1:c.6326G>C	ENSP00000507025.1:p.Gly2109Ala
ENST00000682460.1:c.*2727G>C	ENSP00000508334.1:n.*2727G>C
ENST00000682495.1:c.*2962G>C	ENSP00000507166.1:n.*2962G>C
ENST00000682669.1:c.6269G>C	ENSP00000507782.1:p.Gly2090Ala
ENST00000683186.1:c.*3233G>C	ENSP00000507268.1:n.*3233G>C
ENST00000683496.1:c.*112G>C	ENSP00000506968.1:n.*112G>C
ENST00000683734.1:c.*420G>C	ENSP00000508319.1:n.*420G>C
ENST00000683753.1:n.5516G>C
ENST00000684038.1:c.*2890G>C	ENSP00000507141.1:n.*2890G>C
ENST00000684235.1:c.6470G>C	ENSP00000508295.1:p.Gly2157Ala
ENST00000261866.12:c.6470G>C MANE Select	ENSP00000261866.7:p.Gly2157Ala
ENST00000261866.11:c.6470G>C	ENSP00000261866.7:p.Gly2157Ala
ENST00000427534.6:c.6470G>C	ENSP00000396110.2:p.Gly2157Ala
ENST00000535302.6:c.6131G>C	ENSP00000445278.2:p.Gly2044Ala
ENST00000558138.1:c.269G>C	ENSP00000453314.1:p.Gly90Ala
ENST00000559347.1:n.299G>C
ENST00000559511.5:c.841G>C
ENST00000561268.5:n.275+2151G>C
NM_001160227.1:c.6131G>C	NP_001153699.1:p.Gly2044Ala
NM_025137.3:c.6470G>C	NP_079413.3:p.Gly2157Ala
XM_005254695.3:c.6212G>C	XP_005254752.1:p.Gly2071Ala
XM_006720700.1:c.6326G>C	XP_006720763.1:p.Gly2109Ala
XM_017022634.1:c.6470G>C	XP_016878123.1:p.Gly2157Ala
XM_017022636.1:c.3347G>C	XP_016878125.1:p.Gly1116Ala
NM_025137.4:c.6470G>C MANE Select	NP_079413.3:p.Gly2157Ala
NM_001160227.2:c.6131G>C	NP_001153699.1:p.Gly2044Ala