Canonical Allele Identifier: CA392218331

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44865864G>C (hg19) ; chr15:g.44573666G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573666G>C , CM000677.2:g.44573666G>C	GRCh38
NC_000015.9:g.44865864G>C , CM000677.1:g.44865864G>C	GRCh37
NC_000015.8:g.42653156G>C	NCBI36
NG_008885.1:g.95013C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-3008C>G	ENSP00000453246.2:n.5867-3008C>G
ENST00000561391.2:n.2314C>G
ENST00000682065.1:c.5942C>G	ENSP00000507025.1:p.Pro1981Arg
ENST00000682460.1:c.*2343C>G	ENSP00000508334.1:n.*2343C>G
ENST00000682495.1:c.*2578C>G	ENSP00000507166.1:n.*2578C>G
ENST00000682669.1:c.5885C>G	ENSP00000507782.1:p.Pro1962Arg
ENST00000683186.1:c.*2849C>G	ENSP00000507268.1:n.*2849C>G
ENST00000683496.1:c.6006+1236C>G	ENSP00000506968.1:n.6006+1236C>G
ENST00000683734.1:c.*36C>G	ENSP00000508319.1:n.*36C>G
ENST00000683753.1:n.5132C>G
ENST00000684038.1:c.*2506C>G	ENSP00000507141.1:n.*2506C>G
ENST00000684235.1:c.6086C>G	ENSP00000508295.1:p.Pro2029Arg
ENST00000684676.1:c.*235C>G	ENSP00000506948.1:n.*235C>G
ENST00000261866.12:c.6086C>G MANE Select	ENSP00000261866.7:p.Pro2029Arg
ENST00000261866.11:c.6086C>G	ENSP00000261866.7:p.Pro2029Arg
ENST00000427534.6:c.6086C>G	ENSP00000396110.2:p.Pro2029Arg
ENST00000535302.6:c.5867-846C>G	ENSP00000445278.2:n.5867-846C>G
ENST00000558080.1:n.451C>G
ENST00000558319.5:c.6086C>G	ENSP00000453599.1:p.Pro2029Arg
ENST00000559511.5:c.715-3008C>G
ENST00000559933.1:n.155C>G
ENST00000561268.5:n.18C>G
NM_001160227.1:c.5867-846C>G	NP_001153699.1:n.5867-846C>G
NM_025137.3:c.6086C>G	NP_079413.3:p.Pro2029Arg
XM_005254695.3:c.5828C>G	XP_005254752.1:p.Pro1943Arg
XM_006720700.1:c.5942C>G	XP_006720763.1:p.Pro1981Arg
XM_017022634.1:c.6086C>G	XP_016878123.1:p.Pro2029Arg
XM_017022636.1:c.2963C>G	XP_016878125.1:p.Pro988Arg
NM_025137.4:c.6086C>G MANE Select	NP_079413.3:p.Pro2029Arg
NM_001160227.2:c.5867-846C>G	NP_001153699.1:n.5867-846C>G