Canonical Allele Identifier: CA392216290

Gene: SPG11

Linked Data

• gnomAD v4: 15-44570555-G-C
• MyVariant Identifiers: chr15:g.44862753G>C (hg19) ; chr15:g.44570555G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570555G>C , CM000677.2:g.44570555G>C	GRCh38
NC_000015.9:g.44862753G>C , CM000677.1:g.44862753G>C	GRCh37
NC_000015.8:g.42650045G>C	NCBI36
NG_008885.1:g.98124C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.246C>G	ENSP00000453314.2:p.His82Gln
ENST00000559511.6:c.5970C>G	ENSP00000453246.2:p.His1990Gln
ENST00000682065.1:c.6303C>G	ENSP00000507025.1:p.His2101Gln
ENST00000682460.1:c.*2704C>G	ENSP00000508334.1:n.*2704C>G
ENST00000682495.1:c.*2939C>G	ENSP00000507166.1:n.*2939C>G
ENST00000682669.1:c.6246C>G	ENSP00000507782.1:p.His2082Gln
ENST00000683186.1:c.*3210C>G	ENSP00000507268.1:n.*3210C>G
ENST00000683496.1:c.*89C>G	ENSP00000506968.1:n.*89C>G
ENST00000683734.1:c.*397C>G	ENSP00000508319.1:n.*397C>G
ENST00000683753.1:n.5493C>G
ENST00000684038.1:c.*2867C>G	ENSP00000507141.1:n.*2867C>G
ENST00000684235.1:c.6447C>G	ENSP00000508295.1:p.His2149Gln
ENST00000261866.12:c.6447C>G MANE Select	ENSP00000261866.7:p.His2149Gln
ENST00000261866.11:c.6447C>G	ENSP00000261866.7:p.His2149Gln
ENST00000427534.6:c.6447C>G	ENSP00000396110.2:p.His2149Gln
ENST00000535302.6:c.6108C>G	ENSP00000445278.2:p.His2036Gln
ENST00000558138.1:c.246C>G	ENSP00000453314.1:p.His82Gln
ENST00000559347.1:n.276C>G
ENST00000559511.5:c.818C>G
ENST00000559933.1:n.516C>G
ENST00000561268.5:n.275+2128C>G
NM_001160227.1:c.6108C>G	NP_001153699.1:p.His2036Gln
NM_025137.3:c.6447C>G	NP_079413.3:p.His2149Gln
XM_005254695.3:c.6189C>G	XP_005254752.1:p.His2063Gln
XM_006720700.1:c.6303C>G	XP_006720763.1:p.His2101Gln
XM_017022634.1:c.6447C>G	XP_016878123.1:p.His2149Gln
XM_017022636.1:c.3324C>G	XP_016878125.1:p.His1108Gln
NM_025137.4:c.6447C>G MANE Select	NP_079413.3:p.His2149Gln
NM_001160227.2:c.6108C>G	NP_001153699.1:p.His2036Gln