Canonical Allele Identifier: CA392216499

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862851C>A (hg19) ; chr15:g.44570653C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570653C>A , CM000677.2:g.44570653C>A	GRCh38
NC_000015.9:g.44862851C>A , CM000677.1:g.44862851C>A	GRCh37
NC_000015.8:g.42650143C>A	NCBI36
NG_008885.1:g.98026G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.148G>T	ENSP00000453314.2:p.Glu50Ter
ENST00000559511.6:c.5872G>T	ENSP00000453246.2:p.Glu1958Ter
ENST00000682065.1:c.6205G>T	ENSP00000507025.1:p.Glu2069Ter
ENST00000682460.1:c.*2606G>T	ENSP00000508334.1:n.*2606G>T
ENST00000682495.1:c.*2841G>T	ENSP00000507166.1:n.*2841G>T
ENST00000682669.1:c.6148G>T	ENSP00000507782.1:p.Glu2050Ter
ENST00000683186.1:c.*3112G>T	ENSP00000507268.1:n.*3112G>T
ENST00000683496.1:c.6007-1G>T	ENSP00000506968.1:n.6007-1G>T
ENST00000683734.1:c.*299G>T	ENSP00000508319.1:n.*299G>T
ENST00000683753.1:n.5395G>T
ENST00000684038.1:c.*2769G>T	ENSP00000507141.1:n.*2769G>T
ENST00000684235.1:c.6349G>T	ENSP00000508295.1:p.Glu2117Ter
ENST00000261866.12:c.6349G>T MANE Select	ENSP00000261866.7:p.Glu2117Ter
ENST00000261866.11:c.6349G>T	ENSP00000261866.7:p.Glu2117Ter
ENST00000427534.6:c.6349G>T	ENSP00000396110.2:p.Glu2117Ter
ENST00000535302.6:c.6010G>T	ENSP00000445278.2:p.Glu2004Ter
ENST00000558138.1:c.148G>T	ENSP00000453314.1:p.Glu50Ter
ENST00000559347.1:n.178G>T
ENST00000559511.5:c.720G>T
ENST00000559933.1:n.418G>T
ENST00000561268.5:n.275+2030G>T
NM_001160227.1:c.6010G>T	NP_001153699.1:p.Glu2004Ter
NM_025137.3:c.6349G>T	NP_079413.3:p.Glu2117Ter
XM_005254695.3:c.6091G>T	XP_005254752.1:p.Glu2031Ter
XM_006720700.1:c.6205G>T	XP_006720763.1:p.Glu2069Ter
XM_017022634.1:c.6349G>T	XP_016878123.1:p.Glu2117Ter
XM_017022636.1:c.3226G>T	XP_016878125.1:p.Glu1076Ter
NM_025137.4:c.6349G>T MANE Select	NP_079413.3:p.Glu2117Ter
NM_001160227.2:c.6010G>T	NP_001153699.1:p.Glu2004Ter