Canonical Allele Identifier: CA392222191

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44876324A>C (hg19) ; chr15:g.44584126A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584126A>C , CM000677.2:g.44584126A>C	GRCh38
NC_000015.9:g.44876324A>C , CM000677.1:g.44876324A>C	GRCh37
NC_000015.8:g.42663616A>C	NCBI36
NG_008885.1:g.84553T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5554T>G	ENSP00000453246.2:p.Ser1852Ala
ENST00000561391.2:n.1782T>G
ENST00000682065.1:c.5410T>G	ENSP00000507025.1:p.Ser1804Ala
ENST00000682460.1:c.*1811T>G	ENSP00000508334.1:n.*1811T>G
ENST00000682495.1:c.*2046T>G	ENSP00000507166.1:n.*2046T>G
ENST00000682669.1:c.5353T>G	ENSP00000507782.1:p.Ser1785Ala
ENST00000683186.1:c.*2317T>G	ENSP00000507268.1:n.*2317T>G
ENST00000683496.1:c.5554T>G	ENSP00000506968.1:p.Ser1852Ala
ENST00000683734.1:c.5554T>G	ENSP00000508319.1:p.Ser1852Ala
ENST00000683753.1:n.4600T>G
ENST00000684038.1:c.*1974T>G	ENSP00000507141.1:n.*1974T>G
ENST00000684235.1:c.5554T>G	ENSP00000508295.1:p.Ser1852Ala
ENST00000684676.1:c.5515+39T>G	ENSP00000506948.1:n.5515+39T>G
ENST00000261866.12:c.5554T>G MANE Select	ENSP00000261866.7:p.Ser1852Ala
ENST00000261866.11:c.5554T>G	ENSP00000261866.7:p.Ser1852Ala
ENST00000427534.6:c.5554T>G	ENSP00000396110.2:p.Ser1852Ala
ENST00000535302.6:c.5554T>G	ENSP00000445278.2:p.Ser1852Ala
ENST00000558319.5:c.5554T>G	ENSP00000453599.1:p.Ser1852Ala
ENST00000559511.5:c.402T>G
ENST00000559822.1:c.287+39T>G
NM_001160227.1:c.5554T>G	NP_001153699.1:p.Ser1852Ala
NM_025137.3:c.5554T>G	NP_079413.3:p.Ser1852Ala
XM_005254695.3:c.5296T>G	XP_005254752.1:p.Ser1766Ala
XM_006720700.1:c.5410T>G	XP_006720763.1:p.Ser1804Ala
XM_017022634.1:c.5554T>G	XP_016878123.1:p.Ser1852Ala
XM_017022636.1:c.2431T>G	XP_016878125.1:p.Ser811Ala
NM_025137.4:c.5554T>G MANE Select	NP_079413.3:p.Ser1852Ala
NM_001160227.2:c.5554T>G	NP_001153699.1:p.Ser1852Ala