Canonical Allele Identifier: CA490203079

Gene: SPG11

Linked Data

• COSMIC: COSM6199359
• MyVariant Identifiers: chr15:g.44862756G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570558G>A , CM000677.2:g.44570558G>A	GRCh38
NC_000015.9:g.44862756G>A , CM000677.1:g.44862756G>A	GRCh37
NC_000015.8:g.42650048G>A	NCBI36
NG_008885.1:g.98121C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.243C>T	ENSP00000453314.2:p.Asn81=
ENST00000559511.6:c.5967C>T	ENSP00000453246.2:p.Asn1989=
ENST00000682065.1:c.6300C>T	ENSP00000507025.1:p.Asn2100=
ENST00000682460.1:c.*2701C>T	ENSP00000508334.1:n.*2701C>T
ENST00000682495.1:c.*2936C>T	ENSP00000507166.1:n.*2936C>T
ENST00000682669.1:c.6243C>T	ENSP00000507782.1:p.Asn2081=
ENST00000683186.1:c.*3207C>T	ENSP00000507268.1:n.*3207C>T
ENST00000683496.1:c.*86C>T	ENSP00000506968.1:n.*86C>T
ENST00000683734.1:c.*394C>T	ENSP00000508319.1:n.*394C>T
ENST00000683753.1:n.5490C>T
ENST00000684038.1:c.*2864C>T	ENSP00000507141.1:n.*2864C>T
ENST00000684235.1:c.6444C>T	ENSP00000508295.1:p.Asn2148=
ENST00000261866.12:c.6444C>T MANE Select	ENSP00000261866.7:p.Asn2148=
ENST00000261866.11:c.6444C>T	ENSP00000261866.7:p.Asn2148=
ENST00000427534.6:c.6444C>T	ENSP00000396110.2:p.Asn2148=
ENST00000535302.6:c.6105C>T	ENSP00000445278.2:p.Asn2035=
ENST00000558138.1:c.243C>T	ENSP00000453314.1:p.Asn81=
ENST00000559347.1:n.273C>T
ENST00000559511.5:c.815C>T
ENST00000559933.1:n.513C>T
ENST00000561268.5:n.275+2125C>T
NM_001160227.1:c.6105C>T	NP_001153699.1:p.Asn2035=
NM_025137.3:c.6444C>T	NP_079413.3:p.Asn2148=
XM_005254695.3:c.6186C>T	XP_005254752.1:p.Asn2062=
XM_006720700.1:c.6300C>T	XP_006720763.1:p.Asn2100=
XM_017022634.1:c.6444C>T	XP_016878123.1:p.Asn2148=
XM_017022636.1:c.3321C>T	XP_016878125.1:p.Asn1107=
NM_025137.4:c.6444C>T MANE Select	NP_079413.3:p.Asn2148=
NM_001160227.2:c.6105C>T	NP_001153699.1:p.Asn2035=