Canonical Allele Identifier: CA490329699

Gene: SPG11

Linked Data

• gnomAD v4: 15-44584181-G-A
• MyVariant Identifiers: chr15:g.44876379G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584181G>A , CM000677.2:g.44584181G>A	GRCh38
NC_000015.9:g.44876379G>A , CM000677.1:g.44876379G>A	GRCh37
NC_000015.8:g.42663671G>A	NCBI36
NG_008885.1:g.84498C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5499C>T	ENSP00000453246.2:p.Ser1833=
ENST00000561391.2:n.1727C>T
ENST00000682065.1:c.5355C>T	ENSP00000507025.1:p.Ser1785=
ENST00000682460.1:c.*1756C>T	ENSP00000508334.1:n.*1756C>T
ENST00000682495.1:c.*1991C>T	ENSP00000507166.1:n.*1991C>T
ENST00000682669.1:c.5298C>T	ENSP00000507782.1:p.Ser1766=
ENST00000683186.1:c.*2262C>T	ENSP00000507268.1:n.*2262C>T
ENST00000683496.1:c.5499C>T	ENSP00000506968.1:p.Ser1833=
ENST00000683734.1:c.5499C>T	ENSP00000508319.1:p.Ser1833=
ENST00000683753.1:n.4545C>T
ENST00000684038.1:c.*1919C>T	ENSP00000507141.1:n.*1919C>T
ENST00000684235.1:c.5499C>T	ENSP00000508295.1:p.Ser1833=
ENST00000684676.1:c.5499C>T	ENSP00000506948.1:p.Ser1833=
ENST00000261866.12:c.5499C>T MANE Select	ENSP00000261866.7:p.Ser1833=
ENST00000261866.11:c.5499C>T	ENSP00000261866.7:p.Ser1833=
ENST00000427534.6:c.5499C>T	ENSP00000396110.2:p.Ser1833=
ENST00000535302.6:c.5499C>T	ENSP00000445278.2:p.Ser1833=
ENST00000558319.5:c.5499C>T	ENSP00000453599.1:p.Ser1833=
ENST00000559511.5:c.347C>T
ENST00000559822.1:c.271C>T
NM_001160227.1:c.5499C>T	NP_001153699.1:p.Ser1833=
NM_025137.3:c.5499C>T	NP_079413.3:p.Ser1833=
XM_005254695.3:c.5241C>T	XP_005254752.1:p.Ser1747=
XM_006720700.1:c.5355C>T	XP_006720763.1:p.Ser1785=
XM_017022634.1:c.5499C>T	XP_016878123.1:p.Ser1833=
XM_017022636.1:c.2376C>T	XP_016878125.1:p.Ser792=
NM_025137.4:c.5499C>T MANE Select	NP_079413.3:p.Ser1833=
NM_001160227.2:c.5499C>T	NP_001153699.1:p.Ser1833=