Canonical Allele Identifier: CA490203206

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862855G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570657G>C , CM000677.2:g.44570657G>C	GRCh38
NC_000015.9:g.44862855G>C , CM000677.1:g.44862855G>C	GRCh37
NC_000015.8:g.42650147G>C	NCBI36
NG_008885.1:g.98022C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.144C>G	ENSP00000453314.2:p.Thr48=
ENST00000559511.6:c.5868C>G	ENSP00000453246.2:p.Thr1956=
ENST00000682065.1:c.6201C>G	ENSP00000507025.1:p.Thr2067=
ENST00000682460.1:c.*2602C>G	ENSP00000508334.1:n.*2602C>G
ENST00000682495.1:c.*2837C>G	ENSP00000507166.1:n.*2837C>G
ENST00000682669.1:c.6144C>G	ENSP00000507782.1:p.Thr2048=
ENST00000683186.1:c.*3108C>G	ENSP00000507268.1:n.*3108C>G
ENST00000683496.1:c.6007-5C>G	ENSP00000506968.1:n.6007-5C>G
ENST00000683734.1:c.*295C>G	ENSP00000508319.1:n.*295C>G
ENST00000683753.1:n.5391C>G
ENST00000684038.1:c.*2765C>G	ENSP00000507141.1:n.*2765C>G
ENST00000684235.1:c.6345C>G	ENSP00000508295.1:p.Thr2115=
ENST00000261866.12:c.6345C>G MANE Select	ENSP00000261866.7:p.Thr2115=
ENST00000261866.11:c.6345C>G	ENSP00000261866.7:p.Thr2115=
ENST00000427534.6:c.6345C>G	ENSP00000396110.2:p.Thr2115=
ENST00000535302.6:c.6006C>G	ENSP00000445278.2:p.Thr2002=
ENST00000558138.1:c.144C>G	ENSP00000453314.1:p.Thr48=
ENST00000559347.1:n.174C>G
ENST00000559511.5:c.716C>G
ENST00000559933.1:n.414C>G
ENST00000561268.5:n.275+2026C>G
NM_001160227.1:c.6006C>G	NP_001153699.1:p.Thr2002=
NM_025137.3:c.6345C>G	NP_079413.3:p.Thr2115=
XM_005254695.3:c.6087C>G	XP_005254752.1:p.Thr2029=
XM_006720700.1:c.6201C>G	XP_006720763.1:p.Thr2067=
XM_017022634.1:c.6345C>G	XP_016878123.1:p.Thr2115=
XM_017022636.1:c.3222C>G	XP_016878125.1:p.Thr1074=
NM_025137.4:c.6345C>G MANE Select	NP_079413.3:p.Thr2115=
NM_001160227.2:c.6006C>G	NP_001153699.1:p.Thr2002=