Canonical Allele Identifier: CA2173686831

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584554G= , CM000677.2:g.44584554G=	GRCh38
NC_000015.9:g.44876752G= , CM000677.1:g.44876752G=	GRCh37
NC_000015.8:g.42664044G=	NCBI36
NG_008885.1:g.84125C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5126C=	ENSP00000453246.2:p.Thr1709=
ENST00000561391.2:n.1354C=
ENST00000682065.1:c.5122-140C=	ENSP00000507025.1:n.5122-140C=
ENST00000682460.1:c.*1383C=	ENSP00000508334.1:n.*1383C=
ENST00000682495.1:c.*1618C=	ENSP00000507166.1:n.*1618C=
ENST00000682669.1:c.4925C=	ENSP00000507782.1:p.Thr1642=
ENST00000683186.1:c.*1889C=	ENSP00000507268.1:n.*1889C=
ENST00000683496.1:c.5126C=	ENSP00000506968.1:p.Thr1709=
ENST00000683734.1:c.5126C=	ENSP00000508319.1:p.Thr1709=
ENST00000683753.1:n.4172C=
ENST00000684038.1:c.*1546C=	ENSP00000507141.1:n.*1546C=
ENST00000684235.1:c.5126C=	ENSP00000508295.1:p.Thr1709=
ENST00000684676.1:c.5126C=	ENSP00000506948.1:p.Thr1709=
ENST00000261866.12:c.5126C= MANE Select	ENSP00000261866.7:p.Thr1709=
ENST00000261866.11:c.5126C=	ENSP00000261866.7:p.Thr1709=
ENST00000427534.6:c.5126C=	ENSP00000396110.2:p.Thr1709=
ENST00000535302.6:c.5126C=	ENSP00000445278.2:p.Thr1709=
ENST00000558319.5:c.5126C=	ENSP00000453599.1:p.Thr1709=
ENST00000558790.5:n.563C=
NM_001160227.1:c.5126C=	NP_001153699.1:p.Thr1709=
NM_025137.3:c.5126C=	NP_079413.3:p.Thr1709=
XM_005254695.3:c.4868C=	XP_005254752.1:p.Thr1623=
XM_006720700.1:c.5122-140C=	XP_006720763.1:n.5122-140C=
XM_017022634.1:c.5126C=	XP_016878123.1:p.Thr1709=
XM_017022636.1:c.2003C=	XP_016878125.1:p.Thr668=
XR_931917.2:n.5180C=
NM_025137.4:c.5126C= MANE Select	NP_079413.3:p.Thr1709=
NM_001160227.2:c.5126C=	NP_001153699.1:p.Thr1709=