Canonical Allele Identifier: CA392213251

Gene: SPG11

Linked Data

• ClinVar Variation Id: 1041598
• ClinVar RCV Id: RCV001345425
• dbSNP Id: rs780006264
• gnomAD v2: 15-44858155-G-T
• gnomAD v4: 15-44565957-G-T
• MyVariant Identifiers: chr15:g.44858155G>T (hg19) ; chr15:g.44565957G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44565957G>T , CM000677.2:g.44565957G>T	GRCh38
NC_000015.9:g.44858155G>T , CM000677.1:g.44858155G>T	GRCh37
NC_000015.8:g.42645447G>T	NCBI36
NG_008885.1:g.102722C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.587C>A	ENSP00000453314.2:p.Thr196Asn
ENST00000559511.6:c.6419C>A	ENSP00000453246.2:p.Thr2140Asn
ENST00000682065.1:c.6752C>A	ENSP00000507025.1:p.Thr2251Asn
ENST00000682460.1:c.*3153C>A	ENSP00000508334.1:n.*3153C>A
ENST00000682495.1:c.*3388C>A	ENSP00000507166.1:n.*3388C>A
ENST00000682669.1:c.6695C>A	ENSP00000507782.1:p.Thr2232Asn
ENST00000683186.1:c.*3659C>A	ENSP00000507268.1:n.*3659C>A
ENST00000683496.1:c.*538C>A	ENSP00000506968.1:n.*538C>A
ENST00000683734.1:c.*846C>A	ENSP00000508319.1:n.*846C>A
ENST00000683753.1:n.5942C>A
ENST00000684038.1:c.*3316C>A	ENSP00000507141.1:n.*3316C>A
ENST00000684235.1:c.6896C>A	ENSP00000508295.1:p.Thr2299Asn
ENST00000261866.12:c.6896C>A MANE Select	ENSP00000261866.7:p.Thr2299Asn
ENST00000261866.11:c.6896C>A	ENSP00000261866.7:p.Thr2299Asn
ENST00000427534.6:c.6754+1467C>A	ENSP00000396110.2:n.6754+1467C>A
ENST00000535302.6:c.6557C>A	ENSP00000445278.2:p.Thr2186Asn
ENST00000558138.1:c.587C>A	ENSP00000453314.1:p.Thr196Asn
ENST00000559511.5:c.1267C>A
ENST00000560299.1:n.188C>A
NM_001160227.1:c.6557C>A	NP_001153699.1:p.Thr2186Asn
NM_025137.3:c.6896C>A	NP_079413.3:p.Thr2299Asn
XM_005254695.3:c.6638C>A	XP_005254752.1:p.Thr2213Asn
XM_006720700.1:c.6752C>A	XP_006720763.1:p.Thr2251Asn
XM_017022634.1:c.6788C>A	XP_016878123.1:p.Thr2263Asn
XM_017022636.1:c.3773C>A	XP_016878125.1:p.Thr1258Asn
NM_025137.4:c.6896C>A MANE Select	NP_079413.3:p.Thr2299Asn
NM_001160227.2:c.6557C>A	NP_001153699.1:p.Thr2186Asn