Canonical Allele Identifier: CA2173686807

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584544C= , CM000677.2:g.44584544C=	GRCh38
NC_000015.9:g.44876742C= , CM000677.1:g.44876742C=	GRCh37
NC_000015.8:g.42664034C=	NCBI36
NG_008885.1:g.84135G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5136G=	ENSP00000453246.2:p.Met1712=
ENST00000561391.2:n.1364G=
ENST00000682065.1:c.5122-130G=	ENSP00000507025.1:n.5122-130G=
ENST00000682460.1:c.*1393G=	ENSP00000508334.1:n.*1393G=
ENST00000682495.1:c.*1628G=	ENSP00000507166.1:n.*1628G=
ENST00000682669.1:c.4935G=	ENSP00000507782.1:p.Met1645=
ENST00000683186.1:c.*1899G=	ENSP00000507268.1:n.*1899G=
ENST00000683496.1:c.5136G=	ENSP00000506968.1:p.Met1712=
ENST00000683734.1:c.5136G=	ENSP00000508319.1:p.Met1712=
ENST00000683753.1:n.4182G=
ENST00000684038.1:c.*1556G=	ENSP00000507141.1:n.*1556G=
ENST00000684235.1:c.5136G=	ENSP00000508295.1:p.Met1712=
ENST00000684676.1:c.5136G=	ENSP00000506948.1:p.Met1712=
ENST00000261866.12:c.5136G= MANE Select	ENSP00000261866.7:p.Met1712=
ENST00000261866.11:c.5136G=	ENSP00000261866.7:p.Met1712=
ENST00000427534.6:c.5136G=	ENSP00000396110.2:p.Met1712=
ENST00000535302.6:c.5136G=	ENSP00000445278.2:p.Met1712=
ENST00000558319.5:c.5136G=	ENSP00000453599.1:p.Met1712=
ENST00000558790.5:n.573G=
NM_001160227.1:c.5136G=	NP_001153699.1:p.Met1712=
NM_025137.3:c.5136G=	NP_079413.3:p.Met1712=
XM_005254695.3:c.4878G=	XP_005254752.1:p.Met1626=
XM_006720700.1:c.5122-130G=	XP_006720763.1:n.5122-130G=
XM_017022634.1:c.5136G=	XP_016878123.1:p.Met1712=
XM_017022636.1:c.2013G=	XP_016878125.1:p.Met671=
XR_931917.2:n.5190G=
NM_025137.4:c.5136G= MANE Select	NP_079413.3:p.Met1712=
NM_001160227.2:c.5136G=	NP_001153699.1:p.Met1712=