Canonical Allele Identifier: CA392216361

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862785G>C (hg19) ; chr15:g.44570587G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570587G>C , CM000677.2:g.44570587G>C	GRCh38
NC_000015.9:g.44862785G>C , CM000677.1:g.44862785G>C	GRCh37
NC_000015.8:g.42650077G>C	NCBI36
NG_008885.1:g.98092C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.214C>G	ENSP00000453314.2:p.Leu72Val
ENST00000559511.6:c.5938C>G	ENSP00000453246.2:p.Leu1980Val
ENST00000682065.1:c.6271C>G	ENSP00000507025.1:p.Leu2091Val
ENST00000682460.1:c.*2672C>G	ENSP00000508334.1:n.*2672C>G
ENST00000682495.1:c.*2907C>G	ENSP00000507166.1:n.*2907C>G
ENST00000682669.1:c.6214C>G	ENSP00000507782.1:p.Leu2072Val
ENST00000683186.1:c.*3178C>G	ENSP00000507268.1:n.*3178C>G
ENST00000683496.1:c.*57C>G	ENSP00000506968.1:n.*57C>G
ENST00000683734.1:c.*365C>G	ENSP00000508319.1:n.*365C>G
ENST00000683753.1:n.5461C>G
ENST00000684038.1:c.*2835C>G	ENSP00000507141.1:n.*2835C>G
ENST00000684235.1:c.6415C>G	ENSP00000508295.1:p.Leu2139Val
ENST00000261866.12:c.6415C>G MANE Select	ENSP00000261866.7:p.Leu2139Val
ENST00000261866.11:c.6415C>G	ENSP00000261866.7:p.Leu2139Val
ENST00000427534.6:c.6415C>G	ENSP00000396110.2:p.Leu2139Val
ENST00000535302.6:c.6076C>G	ENSP00000445278.2:p.Leu2026Val
ENST00000558138.1:c.214C>G	ENSP00000453314.1:p.Leu72Val
ENST00000559347.1:n.244C>G
ENST00000559511.5:c.786C>G
ENST00000559933.1:n.484C>G
ENST00000561268.5:n.275+2096C>G
NM_001160227.1:c.6076C>G	NP_001153699.1:p.Leu2026Val
NM_025137.3:c.6415C>G	NP_079413.3:p.Leu2139Val
XM_005254695.3:c.6157C>G	XP_005254752.1:p.Leu2053Val
XM_006720700.1:c.6271C>G	XP_006720763.1:p.Leu2091Val
XM_017022634.1:c.6415C>G	XP_016878123.1:p.Leu2139Val
XM_017022636.1:c.3292C>G	XP_016878125.1:p.Leu1098Val
NM_025137.4:c.6415C>G MANE Select	NP_079413.3:p.Leu2139Val
NM_001160227.2:c.6076C>G	NP_001153699.1:p.Leu2026Val