Canonical Allele Identifier: CA10581479

Gene: SPG11

Linked Data

• ClinVar Variation Id: 235890
• ClinVar RCV Id: RCV000224979 ; RCV000498920 ; RCV000706352
• dbSNP Id: rs371334506
• gnomAD v3: 15-44565954-A-G
• gnomAD v4: 15-44565954-A-G
• MyVariant Identifiers: chr15:g.44858152A>G (hg19) ; chr15:g.44565954A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44565954A>G , CM000677.2:g.44565954A>G	GRCh38
NC_000015.9:g.44858152A>G , CM000677.1:g.44858152A>G	GRCh37
NC_000015.8:g.42645444A>G	NCBI36
NG_008885.1:g.102725T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.590T>C	ENSP00000453314.2:p.Leu197Pro
ENST00000559511.6:c.6422T>C	ENSP00000453246.2:p.Leu2141Pro
ENST00000682065.1:c.6755T>C	ENSP00000507025.1:p.Leu2252Pro
ENST00000682460.1:c.*3156T>C	ENSP00000508334.1:n.*3156T>C
ENST00000682495.1:c.*3391T>C	ENSP00000507166.1:n.*3391T>C
ENST00000682669.1:c.6698T>C	ENSP00000507782.1:p.Leu2233Pro
ENST00000683186.1:c.*3662T>C	ENSP00000507268.1:n.*3662T>C
ENST00000683496.1:c.*541T>C	ENSP00000506968.1:n.*541T>C
ENST00000683734.1:c.*849T>C	ENSP00000508319.1:n.*849T>C
ENST00000683753.1:n.5945T>C
ENST00000684038.1:c.*3319T>C	ENSP00000507141.1:n.*3319T>C
ENST00000684235.1:c.6899T>C	ENSP00000508295.1:p.Leu2300Pro
ENST00000261866.12:c.6899T>C MANE Select	ENSP00000261866.7:p.Leu2300Pro
ENST00000261866.11:c.6899T>C	ENSP00000261866.7:p.Leu2300Pro
ENST00000427534.6:c.6754+1470T>C	ENSP00000396110.2:n.6754+1470T>C
ENST00000535302.6:c.6560T>C	ENSP00000445278.2:p.Leu2187Pro
ENST00000558138.1:c.590T>C	ENSP00000453314.1:p.Leu197Pro
ENST00000559511.5:c.1270T>C
ENST00000560299.1:n.191T>C
NM_001160227.1:c.6560T>C	NP_001153699.1:p.Leu2187Pro
NM_025137.3:c.6899T>C	NP_079413.3:p.Leu2300Pro
XM_005254695.3:c.6641T>C	XP_005254752.1:p.Leu2214Pro
XM_006720700.1:c.6755T>C	XP_006720763.1:p.Leu2252Pro
XM_017022634.1:c.6791T>C	XP_016878123.1:p.Leu2264Pro
XM_017022636.1:c.3776T>C	XP_016878125.1:p.Leu1259Pro
NM_025137.4:c.6899T>C MANE Select	NP_079413.3:p.Leu2300Pro
NM_001160227.2:c.6560T>C	NP_001153699.1:p.Leu2187Pro