Canonical Allele Identifier: CA392213260

Gene: SPG11

Linked Data

• dbSNP Id: rs2082299552
• MyVariant Identifiers: chr15:g.44858157T>C (hg19) ; chr15:g.44565959T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44565959T>C , CM000677.2:g.44565959T>C	GRCh38
NC_000015.9:g.44858157T>C , CM000677.1:g.44858157T>C	GRCh37
NC_000015.8:g.42645449T>C	NCBI36
NG_008885.1:g.102720A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000558138.2:c.585A>G	ENSP00000453314.2:p.Ile195Met
ENST00000559511.6:c.6417A>G	ENSP00000453246.2:p.Ile2139Met
ENST00000682065.1:c.6750A>G	ENSP00000507025.1:p.Ile2250Met
ENST00000682460.1:c.*3151A>G	ENSP00000508334.1:n.*3151A>G
ENST00000682495.1:c.*3386A>G	ENSP00000507166.1:n.*3386A>G
ENST00000682669.1:c.6693A>G	ENSP00000507782.1:p.Ile2231Met
ENST00000683186.1:c.*3657A>G	ENSP00000507268.1:n.*3657A>G
ENST00000683496.1:c.*536A>G	ENSP00000506968.1:n.*536A>G
ENST00000683734.1:c.*844A>G	ENSP00000508319.1:n.*844A>G
ENST00000683753.1:n.5940A>G
ENST00000684038.1:c.*3314A>G	ENSP00000507141.1:n.*3314A>G
ENST00000684235.1:c.6894A>G	ENSP00000508295.1:p.Ile2298Met
ENST00000261866.12:c.6894A>G MANE Select	ENSP00000261866.7:p.Ile2298Met
ENST00000261866.11:c.6894A>G	ENSP00000261866.7:p.Ile2298Met
ENST00000427534.6:c.6754+1465A>G	ENSP00000396110.2:n.6754+1465A>G
ENST00000535302.6:c.6555A>G	ENSP00000445278.2:p.Ile2185Met
ENST00000558138.1:c.585A>G	ENSP00000453314.1:p.Ile195Met
ENST00000559511.5:c.1265A>G
ENST00000560299.1:n.186A>G
NM_001160227.1:c.6555A>G	NP_001153699.1:p.Ile2185Met
NM_025137.3:c.6894A>G	NP_079413.3:p.Ile2298Met
XM_005254695.3:c.6636A>G	XP_005254752.1:p.Ile2212Met
XM_006720700.1:c.6750A>G	XP_006720763.1:p.Ile2250Met
XM_017022634.1:c.6786A>G	XP_016878123.1:p.Ile2262Met
XM_017022636.1:c.3771A>G	XP_016878125.1:p.Ile1257Met
NM_025137.4:c.6894A>G MANE Select	NP_079413.3:p.Ile2298Met
NM_001160227.2:c.6555A>G	NP_001153699.1:p.Ile2185Met