Canonical Allele Identifier: CA392218327

Gene: SPG11

Linked Data

• gnomAD v4: 15-44573664-C-G
• MyVariant Identifiers: chr15:g.44865862C>G (hg19) ; chr15:g.44573664C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573664C>G , CM000677.2:g.44573664C>G	GRCh38
NC_000015.9:g.44865862C>G , CM000677.1:g.44865862C>G	GRCh37
NC_000015.8:g.42653154C>G	NCBI36
NG_008885.1:g.95015G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-3006G>C	ENSP00000453246.2:n.5867-3006G>C
ENST00000561391.2:n.2316G>C
ENST00000682065.1:c.5944G>C	ENSP00000507025.1:p.Asp1982His
ENST00000682460.1:c.*2345G>C	ENSP00000508334.1:n.*2345G>C
ENST00000682495.1:c.*2580G>C	ENSP00000507166.1:n.*2580G>C
ENST00000682669.1:c.5887G>C	ENSP00000507782.1:p.Asp1963His
ENST00000683186.1:c.*2851G>C	ENSP00000507268.1:n.*2851G>C
ENST00000683496.1:c.6006+1238G>C	ENSP00000506968.1:n.6006+1238G>C
ENST00000683734.1:c.*38G>C	ENSP00000508319.1:n.*38G>C
ENST00000683753.1:n.5134G>C
ENST00000684038.1:c.*2508G>C	ENSP00000507141.1:n.*2508G>C
ENST00000684235.1:c.6088G>C	ENSP00000508295.1:p.Asp2030His
ENST00000684676.1:c.*237G>C	ENSP00000506948.1:n.*237G>C
ENST00000261866.12:c.6088G>C MANE Select	ENSP00000261866.7:p.Asp2030His
ENST00000261866.11:c.6088G>C	ENSP00000261866.7:p.Asp2030His
ENST00000427534.6:c.6088G>C	ENSP00000396110.2:p.Asp2030His
ENST00000535302.6:c.5867-844G>C	ENSP00000445278.2:n.5867-844G>C
ENST00000558080.1:n.453G>C
ENST00000558319.5:c.6088G>C	ENSP00000453599.1:p.Asp2030His
ENST00000559511.5:c.715-3006G>C
ENST00000559933.1:n.157G>C
ENST00000561268.5:n.20G>C
NM_001160227.1:c.5867-844G>C	NP_001153699.1:n.5867-844G>C
NM_025137.3:c.6088G>C	NP_079413.3:p.Asp2030His
XM_005254695.3:c.5830G>C	XP_005254752.1:p.Asp1944His
XM_006720700.1:c.5944G>C	XP_006720763.1:p.Asp1982His
XM_017022634.1:c.6088G>C	XP_016878123.1:p.Asp2030His
XM_017022636.1:c.2965G>C	XP_016878125.1:p.Asp989His
NM_025137.4:c.6088G>C MANE Select	NP_079413.3:p.Asp2030His
NM_001160227.2:c.5867-844G>C	NP_001153699.1:n.5867-844G>C