Canonical Allele Identifier: CA392217245

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44864930C>T (hg19) ; chr15:g.44572732C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44572732C>T , CM000677.2:g.44572732C>T	GRCh38
NC_000015.9:g.44864930C>T , CM000677.1:g.44864930C>T	GRCh37
NC_000015.8:g.42652222C>T	NCBI36
NG_008885.1:g.95947G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.93G>A	ENSP00000453314.2:p.Met31Ile
ENST00000559511.6:c.5867-2074G>A	ENSP00000453246.2:n.5867-2074G>A
ENST00000682065.1:c.6150G>A	ENSP00000507025.1:p.Met2050Ile
ENST00000682460.1:c.*2551G>A	ENSP00000508334.1:n.*2551G>A
ENST00000682495.1:c.*2786G>A	ENSP00000507166.1:n.*2786G>A
ENST00000682669.1:c.6093G>A	ENSP00000507782.1:p.Met2031Ile
ENST00000683186.1:c.*3057G>A	ENSP00000507268.1:n.*3057G>A
ENST00000683496.1:c.6007-2080G>A	ENSP00000506968.1:n.6007-2080G>A
ENST00000683734.1:c.*244G>A	ENSP00000508319.1:n.*244G>A
ENST00000683753.1:n.5340G>A
ENST00000684038.1:c.*2714G>A	ENSP00000507141.1:n.*2714G>A
ENST00000684235.1:c.6294G>A	ENSP00000508295.1:p.Met2098Ile
ENST00000261866.12:c.6294G>A MANE Select	ENSP00000261866.7:p.Met2098Ile
ENST00000261866.11:c.6294G>A	ENSP00000261866.7:p.Met2098Ile
ENST00000427534.6:c.6294G>A	ENSP00000396110.2:p.Met2098Ile
ENST00000535302.6:c.5955G>A	ENSP00000445278.2:p.Met1985Ile
ENST00000558138.1:c.93G>A	ENSP00000453314.1:p.Met31Ile
ENST00000559511.5:c.715-2074G>A
ENST00000559933.1:n.363G>A
ENST00000561268.5:n.226G>A
NM_001160227.1:c.5955G>A	NP_001153699.1:p.Met1985Ile
NM_025137.3:c.6294G>A	NP_079413.3:p.Met2098Ile
XM_005254695.3:c.6036G>A	XP_005254752.1:p.Met2012Ile
XM_006720700.1:c.6150G>A	XP_006720763.1:p.Met2050Ile
XM_017022634.1:c.6294G>A	XP_016878123.1:p.Met2098Ile
XM_017022636.1:c.3171G>A	XP_016878125.1:p.Met1057Ile
NM_025137.4:c.6294G>A MANE Select	NP_079413.3:p.Met2098Ile
NM_001160227.2:c.5955G>A	NP_001153699.1:p.Met1985Ile