Canonical Allele Identifier: CA392213279

Gene: SPG11

Linked Data

• COSMIC: COSM1640250
• MyVariant Identifiers: chr15:g.44858161A>G (hg19) ; chr15:g.44565963A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44565963A>G , CM000677.2:g.44565963A>G	GRCh38
NC_000015.9:g.44858161A>G , CM000677.1:g.44858161A>G	GRCh37
NC_000015.8:g.42645453A>G	NCBI36
NG_008885.1:g.102716T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000558138.2:c.581T>C	ENSP00000453314.2:p.Leu194Ser
ENST00000559511.6:c.6413T>C	ENSP00000453246.2:p.Leu2138Ser
ENST00000682065.1:c.6746T>C	ENSP00000507025.1:p.Leu2249Ser
ENST00000682460.1:c.*3147T>C	ENSP00000508334.1:n.*3147T>C
ENST00000682495.1:c.*3382T>C	ENSP00000507166.1:n.*3382T>C
ENST00000682669.1:c.6689T>C	ENSP00000507782.1:p.Leu2230Ser
ENST00000683186.1:c.*3653T>C	ENSP00000507268.1:n.*3653T>C
ENST00000683496.1:c.*532T>C	ENSP00000506968.1:n.*532T>C
ENST00000683734.1:c.*840T>C	ENSP00000508319.1:n.*840T>C
ENST00000683753.1:n.5936T>C
ENST00000684038.1:c.*3310T>C	ENSP00000507141.1:n.*3310T>C
ENST00000684235.1:c.6890T>C	ENSP00000508295.1:p.Leu2297Ser
ENST00000261866.12:c.6890T>C MANE Select	ENSP00000261866.7:p.Leu2297Ser
ENST00000261866.11:c.6890T>C	ENSP00000261866.7:p.Leu2297Ser
ENST00000427534.6:c.6754+1461T>C	ENSP00000396110.2:n.6754+1461T>C
ENST00000535302.6:c.6551T>C	ENSP00000445278.2:p.Leu2184Ser
ENST00000558138.1:c.581T>C	ENSP00000453314.1:p.Leu194Ser
ENST00000559511.5:c.1261T>C
ENST00000560299.1:n.182T>C
NM_001160227.1:c.6551T>C	NP_001153699.1:p.Leu2184Ser
NM_025137.3:c.6890T>C	NP_079413.3:p.Leu2297Ser
XM_005254695.3:c.6632T>C	XP_005254752.1:p.Leu2211Ser
XM_006720700.1:c.6746T>C	XP_006720763.1:p.Leu2249Ser
XM_017022634.1:c.6782T>C	XP_016878123.1:p.Leu2261Ser
XM_017022636.1:c.3767T>C	XP_016878125.1:p.Leu1256Ser
NM_025137.4:c.6890T>C MANE Select	NP_079413.3:p.Leu2297Ser
NM_001160227.2:c.6551T>C	NP_001153699.1:p.Leu2184Ser