Canonical Allele Identifier: CA490329904

Gene: SPG11

Linked Data

• dbSNP Id: rs1237369030
• gnomAD v2: 15-44876469-C-A
• gnomAD v4: 15-44584271-C-A
• MyVariant Identifiers: chr15:g.44876469C>A (hg19) ; chr15:g.44584271C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584271C>A , CM000677.2:g.44584271C>A	GRCh38
NC_000015.9:g.44876469C>A , CM000677.1:g.44876469C>A	GRCh37
NC_000015.8:g.42663761C>A	NCBI36
NG_008885.1:g.84408G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5409G>T	ENSP00000453246.2:p.Leu1803=
ENST00000561391.2:n.1637G>T
ENST00000682065.1:c.5265G>T	ENSP00000507025.1:p.Leu1755=
ENST00000682460.1:c.*1666G>T	ENSP00000508334.1:n.*1666G>T
ENST00000682495.1:c.*1901G>T	ENSP00000507166.1:n.*1901G>T
ENST00000682669.1:c.5208G>T	ENSP00000507782.1:p.Leu1736=
ENST00000683186.1:c.*2172G>T	ENSP00000507268.1:n.*2172G>T
ENST00000683496.1:c.5409G>T	ENSP00000506968.1:p.Leu1803=
ENST00000683734.1:c.5409G>T	ENSP00000508319.1:p.Leu1803=
ENST00000683753.1:n.4455G>T
ENST00000684038.1:c.*1829G>T	ENSP00000507141.1:n.*1829G>T
ENST00000684235.1:c.5409G>T	ENSP00000508295.1:p.Leu1803=
ENST00000684676.1:c.5409G>T	ENSP00000506948.1:p.Leu1803=
ENST00000261866.12:c.5409G>T MANE Select	ENSP00000261866.7:p.Leu1803=
ENST00000261866.11:c.5409G>T	ENSP00000261866.7:p.Leu1803=
ENST00000427534.6:c.5409G>T	ENSP00000396110.2:p.Leu1803=
ENST00000535302.6:c.5409G>T	ENSP00000445278.2:p.Leu1803=
ENST00000558319.5:c.5409G>T	ENSP00000453599.1:p.Leu1803=
ENST00000558790.5:n.846G>T
ENST00000559511.5:c.257G>T
ENST00000559822.1:c.181G>T
NM_001160227.1:c.5409G>T	NP_001153699.1:p.Leu1803=
NM_025137.3:c.5409G>T	NP_079413.3:p.Leu1803=
XM_005254695.3:c.5151G>T	XP_005254752.1:p.Leu1717=
XM_006720700.1:c.5265G>T	XP_006720763.1:p.Leu1755=
XM_017022634.1:c.5409G>T	XP_016878123.1:p.Leu1803=
XM_017022636.1:c.2286G>T	XP_016878125.1:p.Leu762=
XR_931917.2:n.5463G>T
NM_025137.4:c.5409G>T MANE Select	NP_079413.3:p.Leu1803=
NM_001160227.2:c.5409G>T	NP_001153699.1:p.Leu1803=