Canonical Allele Identifier: CA490203034

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862729C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570531C>G , CM000677.2:g.44570531C>G	GRCh38
NC_000015.9:g.44862729C>G , CM000677.1:g.44862729C>G	GRCh37
NC_000015.8:g.42650021C>G	NCBI36
NG_008885.1:g.98148G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.270G>C	ENSP00000453314.2:p.Gly90=
ENST00000559511.6:c.5994G>C	ENSP00000453246.2:p.Gly1998=
ENST00000682065.1:c.6327G>C	ENSP00000507025.1:p.Gly2109=
ENST00000682460.1:c.*2728G>C	ENSP00000508334.1:n.*2728G>C
ENST00000682495.1:c.*2963G>C	ENSP00000507166.1:n.*2963G>C
ENST00000682669.1:c.6270G>C	ENSP00000507782.1:p.Gly2090=
ENST00000683186.1:c.*3234G>C	ENSP00000507268.1:n.*3234G>C
ENST00000683496.1:c.*113G>C	ENSP00000506968.1:n.*113G>C
ENST00000683734.1:c.*421G>C	ENSP00000508319.1:n.*421G>C
ENST00000683753.1:n.5517G>C
ENST00000684038.1:c.*2891G>C	ENSP00000507141.1:n.*2891G>C
ENST00000684235.1:c.6471G>C	ENSP00000508295.1:p.Gly2157=
ENST00000261866.12:c.6471G>C MANE Select	ENSP00000261866.7:p.Gly2157=
ENST00000261866.11:c.6471G>C	ENSP00000261866.7:p.Gly2157=
ENST00000427534.6:c.6471G>C	ENSP00000396110.2:p.Gly2157=
ENST00000535302.6:c.6132G>C	ENSP00000445278.2:p.Gly2044=
ENST00000558138.1:c.270G>C	ENSP00000453314.1:p.Gly90=
ENST00000559347.1:n.300G>C
ENST00000559511.5:c.842G>C
ENST00000561268.5:n.275+2152G>C
NM_001160227.1:c.6132G>C	NP_001153699.1:p.Gly2044=
NM_025137.3:c.6471G>C	NP_079413.3:p.Gly2157=
XM_005254695.3:c.6213G>C	XP_005254752.1:p.Gly2071=
XM_006720700.1:c.6327G>C	XP_006720763.1:p.Gly2109=
XM_017022634.1:c.6471G>C	XP_016878123.1:p.Gly2157=
XM_017022636.1:c.3348G>C	XP_016878125.1:p.Gly1116=
NM_025137.4:c.6471G>C MANE Select	NP_079413.3:p.Gly2157=
NM_001160227.2:c.6132G>C	NP_001153699.1:p.Gly2044=