Canonical Allele Identifier: CA392222634

Gene: SPG11

Linked Data

• ClinVar Variation Id: 2266763
• ClinVar RCV Id: RCV002798867
• gnomAD v4: 15-44584284-T-C
• MyVariant Identifiers: chr15:g.44876482T>C (hg19) ; chr15:g.44584284T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584284T>C , CM000677.2:g.44584284T>C	GRCh38
NC_000015.9:g.44876482T>C , CM000677.1:g.44876482T>C	GRCh37
NC_000015.8:g.42663774T>C	NCBI36
NG_008885.1:g.84395A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5396A>G	ENSP00000453246.2:p.Lys1799Arg
ENST00000561391.2:n.1624A>G
ENST00000682065.1:c.5252A>G	ENSP00000507025.1:p.Lys1751Arg
ENST00000682460.1:c.*1653A>G	ENSP00000508334.1:n.*1653A>G
ENST00000682495.1:c.*1888A>G	ENSP00000507166.1:n.*1888A>G
ENST00000682669.1:c.5195A>G	ENSP00000507782.1:p.Lys1732Arg
ENST00000683186.1:c.*2159A>G	ENSP00000507268.1:n.*2159A>G
ENST00000683496.1:c.5396A>G	ENSP00000506968.1:p.Lys1799Arg
ENST00000683734.1:c.5396A>G	ENSP00000508319.1:p.Lys1799Arg
ENST00000683753.1:n.4442A>G
ENST00000684038.1:c.*1816A>G	ENSP00000507141.1:n.*1816A>G
ENST00000684235.1:c.5396A>G	ENSP00000508295.1:p.Lys1799Arg
ENST00000684676.1:c.5396A>G	ENSP00000506948.1:p.Lys1799Arg
ENST00000261866.12:c.5396A>G MANE Select	ENSP00000261866.7:p.Lys1799Arg
ENST00000261866.11:c.5396A>G	ENSP00000261866.7:p.Lys1799Arg
ENST00000427534.6:c.5396A>G	ENSP00000396110.2:p.Lys1799Arg
ENST00000535302.6:c.5396A>G	ENSP00000445278.2:p.Lys1799Arg
ENST00000558319.5:c.5396A>G	ENSP00000453599.1:p.Lys1799Arg
ENST00000558790.5:n.833A>G
ENST00000559511.5:c.244A>G
ENST00000559822.1:c.168A>G
NM_001160227.1:c.5396A>G	NP_001153699.1:p.Lys1799Arg
NM_025137.3:c.5396A>G	NP_079413.3:p.Lys1799Arg
XM_005254695.3:c.5138A>G	XP_005254752.1:p.Lys1713Arg
XM_006720700.1:c.5252A>G	XP_006720763.1:p.Lys1751Arg
XM_017022634.1:c.5396A>G	XP_016878123.1:p.Lys1799Arg
XM_017022636.1:c.2273A>G	XP_016878125.1:p.Lys758Arg
XR_931917.2:n.5450A>G
NM_025137.4:c.5396A>G MANE Select	NP_079413.3:p.Lys1799Arg
NM_001160227.2:c.5396A>G	NP_001153699.1:p.Lys1799Arg