Canonical Allele Identifier: CA392218628

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44867126C>G (hg19) ; chr15:g.44574928C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574928C>G , CM000677.2:g.44574928C>G	GRCh38
NC_000015.9:g.44867126C>G , CM000677.1:g.44867126C>G	GRCh37
NC_000015.8:g.42654418C>G	NCBI36
NG_008885.1:g.93751G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4270G>C	ENSP00000453246.2:n.5867-4270G>C
ENST00000561391.2:n.2208G>C
ENST00000682065.1:c.5836G>C	ENSP00000507025.1:p.Val1946Leu
ENST00000682460.1:c.*2237G>C	ENSP00000508334.1:n.*2237G>C
ENST00000682495.1:c.*2472G>C	ENSP00000507166.1:n.*2472G>C
ENST00000682669.1:c.5779G>C	ENSP00000507782.1:p.Val1927Leu
ENST00000683186.1:c.*2743G>C	ENSP00000507268.1:n.*2743G>C
ENST00000683496.1:c.5980G>C	ENSP00000506968.1:p.Val1994Leu
ENST00000683734.1:c.5867-1183G>C	ENSP00000508319.1:n.5867-1183G>C
ENST00000683753.1:n.5026G>C
ENST00000684038.1:c.*2400G>C	ENSP00000507141.1:n.*2400G>C
ENST00000684235.1:c.5980G>C	ENSP00000508295.1:p.Val1994Leu
ENST00000684676.1:c.*129G>C	ENSP00000506948.1:n.*129G>C
ENST00000261866.12:c.5980G>C MANE Select	ENSP00000261866.7:p.Val1994Leu
ENST00000261866.11:c.5980G>C	ENSP00000261866.7:p.Val1994Leu
ENST00000427534.6:c.5980G>C	ENSP00000396110.2:p.Val1994Leu
ENST00000535302.6:c.5867-2108G>C	ENSP00000445278.2:n.5867-2108G>C
ENST00000558080.1:n.345G>C
ENST00000558319.5:c.5980G>C	ENSP00000453599.1:p.Val1994Leu
ENST00000559511.5:c.715-4270G>C
ENST00000559822.1:c.523G>C
NM_001160227.1:c.5867-2108G>C	NP_001153699.1:n.5867-2108G>C
NM_025137.3:c.5980G>C	NP_079413.3:p.Val1994Leu
XM_005254695.3:c.5722G>C	XP_005254752.1:p.Val1908Leu
XM_006720700.1:c.5836G>C	XP_006720763.1:p.Val1946Leu
XM_017022634.1:c.5980G>C	XP_016878123.1:p.Val1994Leu
XM_017022636.1:c.2857G>C	XP_016878125.1:p.Val953Leu
NM_025137.4:c.5980G>C MANE Select	NP_079413.3:p.Val1994Leu
NM_001160227.2:c.5867-2108G>C	NP_001153699.1:n.5867-2108G>C