Canonical Allele Identifier: CA270079927

Gene: SPG11

Linked Data

• dbSNP Id: rs866759034
• gnomAD v2: 15-44876302-C-T
• gnomAD v3: 15-44584104-C-T
• gnomAD v4: 15-44584104-C-T
• MyVariant Identifiers: chr15:g.44876302C>T (hg19) ; chr15:g.44584104C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584104C>T , CM000677.2:g.44584104C>T	GRCh38
NC_000015.9:g.44876302C>T , CM000677.1:g.44876302C>T	GRCh37
NC_000015.8:g.42663594C>T	NCBI36
NG_008885.1:g.84575G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5576G>A	ENSP00000453246.2:p.Ser1859Asn
ENST00000561391.2:n.1804G>A
ENST00000682065.1:c.5432G>A	ENSP00000507025.1:p.Ser1811Asn
ENST00000682460.1:c.*1833G>A	ENSP00000508334.1:n.*1833G>A
ENST00000682495.1:c.*2068G>A	ENSP00000507166.1:n.*2068G>A
ENST00000682669.1:c.5375G>A	ENSP00000507782.1:p.Ser1792Asn
ENST00000683186.1:c.*2339G>A	ENSP00000507268.1:n.*2339G>A
ENST00000683496.1:c.5576G>A	ENSP00000506968.1:p.Ser1859Asn
ENST00000683734.1:c.5576G>A	ENSP00000508319.1:p.Ser1859Asn
ENST00000683753.1:n.4622G>A
ENST00000684038.1:c.*1996G>A	ENSP00000507141.1:n.*1996G>A
ENST00000684235.1:c.5576G>A	ENSP00000508295.1:p.Ser1859Asn
ENST00000684676.1:c.5515+61G>A	ENSP00000506948.1:n.5515+61G>A
ENST00000261866.12:c.5576G>A MANE Select	ENSP00000261866.7:p.Ser1859Asn
ENST00000261866.11:c.5576G>A	ENSP00000261866.7:p.Ser1859Asn
ENST00000427534.6:c.5576G>A	ENSP00000396110.2:p.Ser1859Asn
ENST00000535302.6:c.5576G>A	ENSP00000445278.2:p.Ser1859Asn
ENST00000558319.5:c.5576G>A	ENSP00000453599.1:p.Ser1859Asn
ENST00000559511.5:c.424G>A
ENST00000559822.1:c.287+61G>A
NM_001160227.1:c.5576G>A	NP_001153699.1:p.Ser1859Asn
NM_025137.3:c.5576G>A	NP_079413.3:p.Ser1859Asn
XM_005254695.3:c.5318G>A	XP_005254752.1:p.Ser1773Asn
XM_006720700.1:c.5432G>A	XP_006720763.1:p.Ser1811Asn
XM_017022634.1:c.5576G>A	XP_016878123.1:p.Ser1859Asn
XM_017022636.1:c.2453G>A	XP_016878125.1:p.Ser818Asn
NM_025137.4:c.5576G>A MANE Select	NP_079413.3:p.Ser1859Asn
NM_001160227.2:c.5576G>A	NP_001153699.1:p.Ser1859Asn