Canonical Allele Identifier: CA2173685273

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570527C= , CM000677.2:g.44570527C=	GRCh38
NC_000015.9:g.44862725C= , CM000677.1:g.44862725C=	GRCh37
NC_000015.8:g.42650017C=	NCBI36
NG_008885.1:g.98152G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.274G=	ENSP00000453314.2:p.Val92=
ENST00000559511.6:c.5998G=	ENSP00000453246.2:p.Val2000=
ENST00000682065.1:c.6331G=	ENSP00000507025.1:p.Val2111=
ENST00000682460.1:c.*2732G=	ENSP00000508334.1:n.*2732G=
ENST00000682495.1:c.*2967G=	ENSP00000507166.1:n.*2967G=
ENST00000682669.1:c.6274G=	ENSP00000507782.1:p.Val2092=
ENST00000683186.1:c.*3238G=	ENSP00000507268.1:n.*3238G=
ENST00000683496.1:c.*117G=	ENSP00000506968.1:n.*117G=
ENST00000683734.1:c.*425G=	ENSP00000508319.1:n.*425G=
ENST00000683753.1:n.5521G=
ENST00000684038.1:c.*2895G=	ENSP00000507141.1:n.*2895G=
ENST00000684235.1:c.6475G=	ENSP00000508295.1:p.Val2159=
ENST00000261866.12:c.6475G= MANE Select	ENSP00000261866.7:p.Val2159=
ENST00000261866.11:c.6475G=	ENSP00000261866.7:p.Val2159=
ENST00000427534.6:c.6475G=	ENSP00000396110.2:p.Val2159=
ENST00000535302.6:c.6136G=	ENSP00000445278.2:p.Val2046=
ENST00000558138.1:c.274G=	ENSP00000453314.1:p.Val92=
ENST00000559347.1:n.304G=
ENST00000559511.5:c.846G=
ENST00000561268.5:n.275+2156G=
NM_001160227.1:c.6136G=	NP_001153699.1:p.Val2046=
NM_025137.3:c.6475G=	NP_079413.3:p.Val2159=
XM_005254695.3:c.6217G=	XP_005254752.1:p.Val2073=
XM_006720700.1:c.6331G=	XP_006720763.1:p.Val2111=
XM_017022634.1:c.6475G=	XP_016878123.1:p.Val2159=
XM_017022636.1:c.3352G=	XP_016878125.1:p.Val1118=
NM_025137.4:c.6475G= MANE Select	NP_079413.3:p.Val2159=
NM_001160227.2:c.6136G=	NP_001153699.1:p.Val2046=