Canonical Allele Identifier: CA392218992

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44867195T>G (hg19) ; chr15:g.44574997T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574997T>G , CM000677.2:g.44574997T>G	GRCh38
NC_000015.9:g.44867195T>G , CM000677.1:g.44867195T>G	GRCh37
NC_000015.8:g.42654487T>G	NCBI36
NG_008885.1:g.93682A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4339A>C	ENSP00000453246.2:n.5867-4339A>C
ENST00000561391.2:n.2139A>C
ENST00000682065.1:c.5767A>C	ENSP00000507025.1:p.Asn1923His
ENST00000682460.1:c.*2168A>C	ENSP00000508334.1:n.*2168A>C
ENST00000682495.1:c.*2403A>C	ENSP00000507166.1:n.*2403A>C
ENST00000682669.1:c.5710A>C	ENSP00000507782.1:p.Asn1904His
ENST00000683186.1:c.*2674A>C	ENSP00000507268.1:n.*2674A>C
ENST00000683496.1:c.5911A>C	ENSP00000506968.1:p.Asn1971His
ENST00000683734.1:c.5867-1252A>C	ENSP00000508319.1:n.5867-1252A>C
ENST00000683753.1:n.4957A>C
ENST00000684038.1:c.*2331A>C	ENSP00000507141.1:n.*2331A>C
ENST00000684235.1:c.5911A>C	ENSP00000508295.1:p.Asn1971His
ENST00000684676.1:c.*60A>C	ENSP00000506948.1:n.*60A>C
ENST00000261866.12:c.5911A>C MANE Select	ENSP00000261866.7:p.Asn1971His
ENST00000261866.11:c.5911A>C	ENSP00000261866.7:p.Asn1971His
ENST00000427534.6:c.5911A>C	ENSP00000396110.2:p.Asn1971His
ENST00000535302.6:c.5867-2177A>C	ENSP00000445278.2:n.5867-2177A>C
ENST00000558080.1:n.276A>C
ENST00000558319.5:c.5911A>C	ENSP00000453599.1:p.Asn1971His
ENST00000559511.5:c.715-4339A>C
ENST00000559822.1:c.454A>C
NM_001160227.1:c.5867-2177A>C	NP_001153699.1:n.5867-2177A>C
NM_025137.3:c.5911A>C	NP_079413.3:p.Asn1971His
XM_005254695.3:c.5653A>C	XP_005254752.1:p.Asn1885His
XM_006720700.1:c.5767A>C	XP_006720763.1:p.Asn1923His
XM_017022634.1:c.5911A>C	XP_016878123.1:p.Asn1971His
XM_017022636.1:c.2788A>C	XP_016878125.1:p.Asn930His
NM_025137.4:c.5911A>C MANE Select	NP_079413.3:p.Asn1971His
NM_001160227.2:c.5867-2177A>C	NP_001153699.1:n.5867-2177A>C