Canonical Allele Identifier: CA490329582

Gene: SPG11

Linked Data

• ClinVar Variation Id: 1099315
• ClinVar RCV Id: RCV001421554
• dbSNP Id: rs1217386610
• gnomAD v2: 15-44876184-G-A
• gnomAD v4: 15-44583986-G-A
• MyVariant Identifiers: chr15:g.44876184G>A (hg19) ; chr15:g.44583986G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44583986G>A , CM000677.2:g.44583986G>A	GRCh38
NC_000015.9:g.44876184G>A , CM000677.1:g.44876184G>A	GRCh37
NC_000015.8:g.42663476G>A	NCBI36
NG_008885.1:g.84693C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5694C>T	ENSP00000453246.2:p.Cys1898=
ENST00000561391.2:n.1922C>T
ENST00000682065.1:c.5550C>T	ENSP00000507025.1:p.Cys1850=
ENST00000682460.1:c.*1951C>T	ENSP00000508334.1:n.*1951C>T
ENST00000682495.1:c.*2186C>T	ENSP00000507166.1:n.*2186C>T
ENST00000682669.1:c.5493C>T	ENSP00000507782.1:p.Cys1831=
ENST00000683186.1:c.*2457C>T	ENSP00000507268.1:n.*2457C>T
ENST00000683496.1:c.5694C>T	ENSP00000506968.1:p.Cys1898=
ENST00000683734.1:c.5694C>T	ENSP00000508319.1:p.Cys1898=
ENST00000683753.1:n.4740C>T
ENST00000684038.1:c.*2114C>T	ENSP00000507141.1:n.*2114C>T
ENST00000684235.1:c.5694C>T	ENSP00000508295.1:p.Cys1898=
ENST00000684676.1:c.5516-51C>T	ENSP00000506948.1:n.5516-51C>T
ENST00000261866.12:c.5694C>T MANE Select	ENSP00000261866.7:p.Cys1898=
ENST00000261866.11:c.5694C>T	ENSP00000261866.7:p.Cys1898=
ENST00000427534.6:c.5694C>T	ENSP00000396110.2:p.Cys1898=
ENST00000535302.6:c.5694C>T	ENSP00000445278.2:p.Cys1898=
ENST00000558319.5:c.5694C>T	ENSP00000453599.1:p.Cys1898=
ENST00000559511.5:c.542C>T
ENST00000559822.1:c.288-51C>T
NM_001160227.1:c.5694C>T	NP_001153699.1:p.Cys1898=
NM_025137.3:c.5694C>T	NP_079413.3:p.Cys1898=
XM_005254695.3:c.5436C>T	XP_005254752.1:p.Cys1812=
XM_006720700.1:c.5550C>T	XP_006720763.1:p.Cys1850=
XM_017022634.1:c.5694C>T	XP_016878123.1:p.Cys1898=
XM_017022636.1:c.2571C>T	XP_016878125.1:p.Cys857=
NM_025137.4:c.5694C>T MANE Select	NP_079413.3:p.Cys1898=
NM_001160227.2:c.5694C>T	NP_001153699.1:p.Cys1898=