Canonical Allele Identifier: CA392216256

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862735C>G (hg19) ; chr15:g.44570537C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570537C>G , CM000677.2:g.44570537C>G	GRCh38
NC_000015.9:g.44862735C>G , CM000677.1:g.44862735C>G	GRCh37
NC_000015.8:g.42650027C>G	NCBI36
NG_008885.1:g.98142G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.264G>C	ENSP00000453314.2:p.Glu88Asp
ENST00000559511.6:c.5988G>C	ENSP00000453246.2:p.Glu1996Asp
ENST00000682065.1:c.6321G>C	ENSP00000507025.1:p.Glu2107Asp
ENST00000682460.1:c.*2722G>C	ENSP00000508334.1:n.*2722G>C
ENST00000682495.1:c.*2957G>C	ENSP00000507166.1:n.*2957G>C
ENST00000682669.1:c.6264G>C	ENSP00000507782.1:p.Glu2088Asp
ENST00000683186.1:c.*3228G>C	ENSP00000507268.1:n.*3228G>C
ENST00000683496.1:c.*107G>C	ENSP00000506968.1:n.*107G>C
ENST00000683734.1:c.*415G>C	ENSP00000508319.1:n.*415G>C
ENST00000683753.1:n.5511G>C
ENST00000684038.1:c.*2885G>C	ENSP00000507141.1:n.*2885G>C
ENST00000684235.1:c.6465G>C	ENSP00000508295.1:p.Glu2155Asp
ENST00000261866.12:c.6465G>C MANE Select	ENSP00000261866.7:p.Glu2155Asp
ENST00000261866.11:c.6465G>C	ENSP00000261866.7:p.Glu2155Asp
ENST00000427534.6:c.6465G>C	ENSP00000396110.2:p.Glu2155Asp
ENST00000535302.6:c.6126G>C	ENSP00000445278.2:p.Glu2042Asp
ENST00000558138.1:c.264G>C	ENSP00000453314.1:p.Glu88Asp
ENST00000559347.1:n.294G>C
ENST00000559511.5:c.836G>C
ENST00000561268.5:n.275+2146G>C
NM_001160227.1:c.6126G>C	NP_001153699.1:p.Glu2042Asp
NM_025137.3:c.6465G>C	NP_079413.3:p.Glu2155Asp
XM_005254695.3:c.6207G>C	XP_005254752.1:p.Glu2069Asp
XM_006720700.1:c.6321G>C	XP_006720763.1:p.Glu2107Asp
XM_017022634.1:c.6465G>C	XP_016878123.1:p.Glu2155Asp
XM_017022636.1:c.3342G>C	XP_016878125.1:p.Glu1114Asp
NM_025137.4:c.6465G>C MANE Select	NP_079413.3:p.Glu2155Asp
NM_001160227.2:c.6126G>C	NP_001153699.1:p.Glu2042Asp