Canonical Allele Identifier: CA392218334

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44865865G>C (hg19) ; chr15:g.44573667G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573667G>C , CM000677.2:g.44573667G>C	GRCh38
NC_000015.9:g.44865865G>C , CM000677.1:g.44865865G>C	GRCh37
NC_000015.8:g.42653157G>C	NCBI36
NG_008885.1:g.95012C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-3009C>G	ENSP00000453246.2:n.5867-3009C>G
ENST00000561391.2:n.2313C>G
ENST00000682065.1:c.5941C>G	ENSP00000507025.1:p.Pro1981Ala
ENST00000682460.1:c.*2342C>G	ENSP00000508334.1:n.*2342C>G
ENST00000682495.1:c.*2577C>G	ENSP00000507166.1:n.*2577C>G
ENST00000682669.1:c.5884C>G	ENSP00000507782.1:p.Pro1962Ala
ENST00000683186.1:c.*2848C>G	ENSP00000507268.1:n.*2848C>G
ENST00000683496.1:c.6006+1235C>G	ENSP00000506968.1:n.6006+1235C>G
ENST00000683734.1:c.*35C>G	ENSP00000508319.1:n.*35C>G
ENST00000683753.1:n.5131C>G
ENST00000684038.1:c.*2505C>G	ENSP00000507141.1:n.*2505C>G
ENST00000684235.1:c.6085C>G	ENSP00000508295.1:p.Pro2029Ala
ENST00000684676.1:c.*234C>G	ENSP00000506948.1:n.*234C>G
ENST00000261866.12:c.6085C>G MANE Select	ENSP00000261866.7:p.Pro2029Ala
ENST00000261866.11:c.6085C>G	ENSP00000261866.7:p.Pro2029Ala
ENST00000427534.6:c.6085C>G	ENSP00000396110.2:p.Pro2029Ala
ENST00000535302.6:c.5867-847C>G	ENSP00000445278.2:n.5867-847C>G
ENST00000558080.1:n.450C>G
ENST00000558319.5:c.6085C>G	ENSP00000453599.1:p.Pro2029Ala
ENST00000559511.5:c.715-3009C>G
ENST00000559933.1:n.154C>G
ENST00000561268.5:n.17C>G
NM_001160227.1:c.5867-847C>G	NP_001153699.1:n.5867-847C>G
NM_025137.3:c.6085C>G	NP_079413.3:p.Pro2029Ala
XM_005254695.3:c.5827C>G	XP_005254752.1:p.Pro1943Ala
XM_006720700.1:c.5941C>G	XP_006720763.1:p.Pro1981Ala
XM_017022634.1:c.6085C>G	XP_016878123.1:p.Pro2029Ala
XM_017022636.1:c.2962C>G	XP_016878125.1:p.Pro988Ala
NM_025137.4:c.6085C>G MANE Select	NP_079413.3:p.Pro2029Ala
NM_001160227.2:c.5867-847C>G	NP_001153699.1:n.5867-847C>G