Canonical Allele Identifier: CA344293

Gene: SPG11

Linked Data

• ClinVar Variation Id: 41269
• ClinVar RCV Id: RCV000034170
• dbSNP Id: rs312262723
• gnomAD v2: 15-44943910-G-C
• gnomAD v4: 15-44651712-G-C
• MyVariant Identifiers: chr15:g.44943910G>C (hg19) ; chr15:g.44651712G>C (hg38)
• PubMed: PMID:18079167 ; PMID:18663179 ; PMID:20301389

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44651712G>C , CM000677.2:g.44651712G>C	GRCh38
NC_000015.9:g.44943910G>C , CM000677.1:g.44943910G>C	GRCh37
NC_000015.8:g.42731202G>C	NCBI36
NG_008885.1:g.16967C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559511.6:c.1235C>G	ENSP00000453246.2:p.Ser412Ter
ENST00000682065.1:c.1235C>G	ENSP00000507025.1:p.Ser412Ter
ENST00000682410.1:n.1264C>G
ENST00000682460.1:c.1235C>G	ENSP00000508334.1:p.Ser412Ter
ENST00000682495.1:c.1235C>G	ENSP00000507166.1:p.Ser412Ter
ENST00000682648.1:n.1180C>G
ENST00000682669.1:c.1235C>G	ENSP00000507782.1:p.Ser412Ter
ENST00000682788.1:c.1235C>G	ENSP00000508089.1:p.Ser412Ter
ENST00000682877.1:n.1266C>G
ENST00000682915.1:c.1235C>G	ENSP00000507493.1:p.Ser412Ter
ENST00000683121.1:c.1235C>G	ENSP00000507557.1:p.Ser412Ter
ENST00000683186.1:c.1235C>G	ENSP00000507268.1:p.Ser412Ter
ENST00000683255.1:c.1235C>G	ENSP00000508340.1:p.Ser412Ter
ENST00000683496.1:c.1235C>G	ENSP00000506968.1:p.Ser412Ter
ENST00000683573.1:c.1235C>G	ENSP00000508031.1:p.Ser412Ter
ENST00000683734.1:c.1235C>G	ENSP00000508319.1:p.Ser412Ter
ENST00000683753.1:n.359C>G
ENST00000684038.1:c.977C>G	ENSP00000507141.1:p.Ser326Ter
ENST00000684235.1:c.1235C>G	ENSP00000508295.1:p.Ser412Ter
ENST00000684490.1:n.1250C>G
ENST00000684676.1:c.1235C>G	ENSP00000506948.1:p.Ser412Ter
ENST00000261866.12:c.1235C>G MANE Select	ENSP00000261866.7:p.Ser412Ter
ENST00000261866.11:c.1235C>G	ENSP00000261866.7:p.Ser412Ter
ENST00000427534.6:c.1235C>G	ENSP00000396110.2:p.Ser412Ter
ENST00000535302.6:c.1235C>G	ENSP00000445278.2:p.Ser412Ter
ENST00000558319.5:c.1235C>G	ENSP00000453599.1:p.Ser412Ter
ENST00000559193.5:c.1235C>G	ENSP00000453848.1:p.Ser412Ter
NM_001160227.1:c.1235C>G	NP_001153699.1:p.Ser412Ter
NM_025137.3:c.1235C>G	NP_079413.3:p.Ser412Ter
XM_005254695.3:c.977C>G	XP_005254752.1:p.Ser326Ter
XM_006720700.1:c.1235C>G	XP_006720763.1:p.Ser412Ter
XM_006720701.2:c.1235C>G	XP_006720764.1:p.Ser412Ter
XM_011522093.1:c.1235C>G	XP_011520395.1:p.Ser412Ter
XR_931917.1:n.1266C>G
XM_006720701.3:c.1235C>G	XP_006720764.1:p.Ser412Ter
XM_017022634.1:c.1235C>G	XP_016878123.1:p.Ser412Ter
XM_017022635.2:c.1235C>G	XP_016878124.1:p.Ser412Ter
XR_001751402.1:n.1266C>G
XR_931917.2:n.1266C>G
NM_025137.4:c.1235C>G MANE Select	NP_079413.3:p.Ser412Ter
NM_001160227.2:c.1235C>G	NP_001153699.1:p.Ser412Ter