Canonical Allele Identifier: CA490203085

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862759A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570561A>G , CM000677.2:g.44570561A>G	GRCh38
NC_000015.9:g.44862759A>G , CM000677.1:g.44862759A>G	GRCh37
NC_000015.8:g.42650051A>G	NCBI36
NG_008885.1:g.98118T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.240T>C	ENSP00000453314.2:p.Asp80=
ENST00000559511.6:c.5964T>C	ENSP00000453246.2:p.Asp1988=
ENST00000682065.1:c.6297T>C	ENSP00000507025.1:p.Asp2099=
ENST00000682460.1:c.*2698T>C	ENSP00000508334.1:n.*2698T>C
ENST00000682495.1:c.*2933T>C	ENSP00000507166.1:n.*2933T>C
ENST00000682669.1:c.6240T>C	ENSP00000507782.1:p.Asp2080=
ENST00000683186.1:c.*3204T>C	ENSP00000507268.1:n.*3204T>C
ENST00000683496.1:c.*83T>C	ENSP00000506968.1:n.*83T>C
ENST00000683734.1:c.*391T>C	ENSP00000508319.1:n.*391T>C
ENST00000683753.1:n.5487T>C
ENST00000684038.1:c.*2861T>C	ENSP00000507141.1:n.*2861T>C
ENST00000684235.1:c.6441T>C	ENSP00000508295.1:p.Asp2147=
ENST00000261866.12:c.6441T>C MANE Select	ENSP00000261866.7:p.Asp2147=
ENST00000261866.11:c.6441T>C	ENSP00000261866.7:p.Asp2147=
ENST00000427534.6:c.6441T>C	ENSP00000396110.2:p.Asp2147=
ENST00000535302.6:c.6102T>C	ENSP00000445278.2:p.Asp2034=
ENST00000558138.1:c.240T>C	ENSP00000453314.1:p.Asp80=
ENST00000559347.1:n.270T>C
ENST00000559511.5:c.812T>C
ENST00000559933.1:n.510T>C
ENST00000561268.5:n.275+2122T>C
NM_001160227.1:c.6102T>C	NP_001153699.1:p.Asp2034=
NM_025137.3:c.6441T>C	NP_079413.3:p.Asp2147=
XM_005254695.3:c.6183T>C	XP_005254752.1:p.Asp2061=
XM_006720700.1:c.6297T>C	XP_006720763.1:p.Asp2099=
XM_017022634.1:c.6441T>C	XP_016878123.1:p.Asp2147=
XM_017022636.1:c.3318T>C	XP_016878125.1:p.Asp1106=
NM_025137.4:c.6441T>C MANE Select	NP_079413.3:p.Asp2147=
NM_001160227.2:c.6102T>C	NP_001153699.1:p.Asp2034=