Canonical Allele Identifier: CA392213264

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44858158A>C (hg19) ; chr15:g.44565960A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44565960A>C , CM000677.2:g.44565960A>C	GRCh38
NC_000015.9:g.44858158A>C , CM000677.1:g.44858158A>C	GRCh37
NC_000015.8:g.42645450A>C	NCBI36
NG_008885.1:g.102719T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.584T>G	ENSP00000453314.2:p.Ile195Arg
ENST00000559511.6:c.6416T>G	ENSP00000453246.2:p.Ile2139Arg
ENST00000682065.1:c.6749T>G	ENSP00000507025.1:p.Ile2250Arg
ENST00000682460.1:c.*3150T>G	ENSP00000508334.1:n.*3150T>G
ENST00000682495.1:c.*3385T>G	ENSP00000507166.1:n.*3385T>G
ENST00000682669.1:c.6692T>G	ENSP00000507782.1:p.Ile2231Arg
ENST00000683186.1:c.*3656T>G	ENSP00000507268.1:n.*3656T>G
ENST00000683496.1:c.*535T>G	ENSP00000506968.1:n.*535T>G
ENST00000683734.1:c.*843T>G	ENSP00000508319.1:n.*843T>G
ENST00000683753.1:n.5939T>G
ENST00000684038.1:c.*3313T>G	ENSP00000507141.1:n.*3313T>G
ENST00000684235.1:c.6893T>G	ENSP00000508295.1:p.Ile2298Arg
ENST00000261866.12:c.6893T>G MANE Select	ENSP00000261866.7:p.Ile2298Arg
ENST00000261866.11:c.6893T>G	ENSP00000261866.7:p.Ile2298Arg
ENST00000427534.6:c.6754+1464T>G	ENSP00000396110.2:n.6754+1464T>G
ENST00000535302.6:c.6554T>G	ENSP00000445278.2:p.Ile2185Arg
ENST00000558138.1:c.584T>G	ENSP00000453314.1:p.Ile195Arg
ENST00000559511.5:c.1264T>G
ENST00000560299.1:n.185T>G
NM_001160227.1:c.6554T>G	NP_001153699.1:p.Ile2185Arg
NM_025137.3:c.6893T>G	NP_079413.3:p.Ile2298Arg
XM_005254695.3:c.6635T>G	XP_005254752.1:p.Ile2212Arg
XM_006720700.1:c.6749T>G	XP_006720763.1:p.Ile2250Arg
XM_017022634.1:c.6785T>G	XP_016878123.1:p.Ile2262Arg
XM_017022636.1:c.3770T>G	XP_016878125.1:p.Ile1257Arg
NM_025137.4:c.6893T>G MANE Select	NP_079413.3:p.Ile2298Arg
NM_001160227.2:c.6554T>G	NP_001153699.1:p.Ile2185Arg