Canonical Allele Identifier: CA392217728

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44865019C>T (hg19) ; chr15:g.44572821C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44572821C>T , CM000677.2:g.44572821C>T	GRCh38
NC_000015.9:g.44865019C>T , CM000677.1:g.44865019C>T	GRCh37
NC_000015.8:g.42652311C>T	NCBI36
NG_008885.1:g.95858G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.4G>A	ENSP00000453314.2:p.Gly2Arg
ENST00000559511.6:c.5867-2163G>A	ENSP00000453246.2:n.5867-2163G>A
ENST00000682065.1:c.6062-1G>A	ENSP00000507025.1:n.6062-1G>A
ENST00000682460.1:c.*2463-1G>A	ENSP00000508334.1:n.*2463-1G>A
ENST00000682495.1:c.*2698-1G>A	ENSP00000507166.1:n.*2698-1G>A
ENST00000682669.1:c.6005-1G>A	ENSP00000507782.1:n.6005-1G>A
ENST00000683186.1:c.*2969-1G>A	ENSP00000507268.1:n.*2969-1G>A
ENST00000683496.1:c.6006+2081G>A	ENSP00000506968.1:n.6006+2081G>A
ENST00000683734.1:c.*156-1G>A	ENSP00000508319.1:n.*156-1G>A
ENST00000683753.1:n.5252-1G>A
ENST00000684038.1:c.*2626-1G>A	ENSP00000507141.1:n.*2626-1G>A
ENST00000684235.1:c.6206-1G>A	ENSP00000508295.1:n.6206-1G>A
ENST00000261866.12:c.6206-1G>A MANE Select	ENSP00000261866.7:n.6206-1G>A
ENST00000261866.11:c.6206-1G>A	ENSP00000261866.7:n.6206-1G>A
ENST00000427534.6:c.6206-1G>A	ENSP00000396110.2:n.6206-1G>A
ENST00000535302.6:c.5867-1G>A	ENSP00000445278.2:n.5867-1G>A
ENST00000558138.1:c.4G>A	ENSP00000453314.1:p.Gly2Arg
ENST00000559511.5:c.715-2163G>A
ENST00000559933.1:n.275-1G>A
ENST00000561268.5:n.138-1G>A
NM_001160227.1:c.5867-1G>A	NP_001153699.1:n.5867-1G>A
NM_025137.3:c.6206-1G>A	NP_079413.3:n.6206-1G>A
XM_005254695.3:c.5948-1G>A	XP_005254752.1:n.5948-1G>A
XM_006720700.1:c.6062-1G>A	XP_006720763.1:n.6062-1G>A
XM_017022634.1:c.6206-1G>A	XP_016878123.1:n.6206-1G>A
XM_017022636.1:c.3083-1G>A	XP_016878125.1:n.3083-1G>A
NM_025137.4:c.6206-1G>A MANE Select	NP_079413.3:n.6206-1G>A
NM_001160227.2:c.5867-1G>A	NP_001153699.1:n.5867-1G>A