Canonical Allele Identifier: CA7534348

Gene: SPG11

Linked Data

• ClinVar Variation Id: 661336
• ClinVar RCV Id: RCV000818730 ; RCV001664437 ; RCV002352444 ; RCV002468068 ; RCV002468069
• dbSNP Id: rs781271890
• ExAC: 15:44876085 G / C
• gnomAD v2: 15-44876085-G-C
• gnomAD v3: 15-44583887-G-C
• gnomAD v4: 15-44583887-G-C
• MyVariant Identifiers: chr15:g.44876085G>C (hg19) ; chr15:g.44583887G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44583887G>C , CM000677.2:g.44583887G>C	GRCh38
NC_000015.9:g.44876085G>C , CM000677.1:g.44876085G>C	GRCh37
NC_000015.8:g.42663377G>C	NCBI36
NG_008885.1:g.84792C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5793C>G	ENSP00000453246.2:p.Ile1931Met
ENST00000561391.2:n.2021C>G
ENST00000682065.1:c.5649C>G	ENSP00000507025.1:p.Ile1883Met
ENST00000682460.1:c.*2050C>G	ENSP00000508334.1:n.*2050C>G
ENST00000682495.1:c.*2285C>G	ENSP00000507166.1:n.*2285C>G
ENST00000682669.1:c.5592C>G	ENSP00000507782.1:p.Ile1864Met
ENST00000683186.1:c.*2556C>G	ENSP00000507268.1:n.*2556C>G
ENST00000683496.1:c.5793C>G	ENSP00000506968.1:p.Ile1931Met
ENST00000683734.1:c.5793C>G	ENSP00000508319.1:p.Ile1931Met
ENST00000683753.1:n.4839C>G
ENST00000684038.1:c.*2213C>G	ENSP00000507141.1:n.*2213C>G
ENST00000684235.1:c.5793C>G	ENSP00000508295.1:p.Ile1931Met
ENST00000684676.1:c.5564C>G	ENSP00000506948.1:p.Ser1855Cys
ENST00000261866.12:c.5793C>G MANE Select	ENSP00000261866.7:p.Ile1931Met
ENST00000261866.11:c.5793C>G	ENSP00000261866.7:p.Ile1931Met
ENST00000427534.6:c.5793C>G	ENSP00000396110.2:p.Ile1931Met
ENST00000535302.6:c.5793C>G	ENSP00000445278.2:p.Ile1931Met
ENST00000558319.5:c.5793C>G	ENSP00000453599.1:p.Ile1931Met
ENST00000559511.5:c.641C>G
ENST00000559822.1:c.336C>G
NM_001160227.1:c.5793C>G	NP_001153699.1:p.Ile1931Met
NM_025137.3:c.5793C>G	NP_079413.3:p.Ile1931Met
XM_005254695.3:c.5535C>G	XP_005254752.1:p.Ile1845Met
XM_006720700.1:c.5649C>G	XP_006720763.1:p.Ile1883Met
XM_017022634.1:c.5793C>G	XP_016878123.1:p.Ile1931Met
XM_017022636.1:c.2670C>G	XP_016878125.1:p.Ile890Met
NM_025137.4:c.5793C>G MANE Select	NP_079413.3:p.Ile1931Met
NM_001160227.2:c.5793C>G	NP_001153699.1:p.Ile1931Met