Canonical Allele Identifier: CA490203063

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862747G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570549G>C , CM000677.2:g.44570549G>C	GRCh38
NC_000015.9:g.44862747G>C , CM000677.1:g.44862747G>C	GRCh37
NC_000015.8:g.42650039G>C	NCBI36
NG_008885.1:g.98130C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.252C>G	ENSP00000453314.2:p.Ala84=
ENST00000559511.6:c.5976C>G	ENSP00000453246.2:p.Ala1992=
ENST00000682065.1:c.6309C>G	ENSP00000507025.1:p.Ala2103=
ENST00000682460.1:c.*2710C>G	ENSP00000508334.1:n.*2710C>G
ENST00000682495.1:c.*2945C>G	ENSP00000507166.1:n.*2945C>G
ENST00000682669.1:c.6252C>G	ENSP00000507782.1:p.Ala2084=
ENST00000683186.1:c.*3216C>G	ENSP00000507268.1:n.*3216C>G
ENST00000683496.1:c.*95C>G	ENSP00000506968.1:n.*95C>G
ENST00000683734.1:c.*403C>G	ENSP00000508319.1:n.*403C>G
ENST00000683753.1:n.5499C>G
ENST00000684038.1:c.*2873C>G	ENSP00000507141.1:n.*2873C>G
ENST00000684235.1:c.6453C>G	ENSP00000508295.1:p.Ala2151=
ENST00000261866.12:c.6453C>G MANE Select	ENSP00000261866.7:p.Ala2151=
ENST00000261866.11:c.6453C>G	ENSP00000261866.7:p.Ala2151=
ENST00000427534.6:c.6453C>G	ENSP00000396110.2:p.Ala2151=
ENST00000535302.6:c.6114C>G	ENSP00000445278.2:p.Ala2038=
ENST00000558138.1:c.252C>G	ENSP00000453314.1:p.Ala84=
ENST00000559347.1:n.282C>G
ENST00000559511.5:c.824C>G
ENST00000561268.5:n.275+2134C>G
NM_001160227.1:c.6114C>G	NP_001153699.1:p.Ala2038=
NM_025137.3:c.6453C>G	NP_079413.3:p.Ala2151=
XM_005254695.3:c.6195C>G	XP_005254752.1:p.Ala2065=
XM_006720700.1:c.6309C>G	XP_006720763.1:p.Ala2103=
XM_017022634.1:c.6453C>G	XP_016878123.1:p.Ala2151=
XM_017022636.1:c.3330C>G	XP_016878125.1:p.Ala1110=
NM_025137.4:c.6453C>G MANE Select	NP_079413.3:p.Ala2151=
NM_001160227.2:c.6114C>G	NP_001153699.1:p.Ala2038=