Canonical Allele Identifier: CA7534004

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44566280C>T , CM000677.2:g.44566280C>T	GRCh38
NC_000015.9:g.44858478C>T , CM000677.1:g.44858478C>T	GRCh37
NC_000015.8:g.42645770C>T	NCBI36
NG_008885.1:g.102399G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.6780G>A MANE Select	NP_079413.3:p.Gln2260=
ENST00000261866.12:c.6780G>A MANE Select	ENSP00000261866.7:p.Gln2260=
NM_001160227.1:c.6441G>A	NP_001153699.1:p.Gln2147=
NM_001160227.2:c.6441G>A	NP_001153699.1:p.Gln2147=
NM_025137.3:c.6780G>A	NP_079413.3:p.Gln2260=
ENST00000261866.11:c.6780G>A	ENSP00000261866.7:p.Gln2260=
ENST00000427534.6:c.6754+1144G>A	ENSP00000396110.2:n.6754+1144G>A
ENST00000535302.6:c.6441G>A	ENSP00000445278.2:p.Gln2147=
ENST00000558138.1:c.471G>A	ENSP00000453314.1:p.Gln157=
ENST00000558138.2:c.471G>A	ENSP00000453314.2:p.Gln157=
ENST00000559347.1:n.609G>A
ENST00000559511.5:c.1151G>A
ENST00000559511.6:c.6303G>A	ENSP00000453246.2:p.Gln2101=
ENST00000682065.1:c.6636G>A	ENSP00000507025.1:p.Gln2212=
ENST00000682460.1:c.*3037G>A	ENSP00000508334.1:n.*3037G>A
ENST00000682495.1:c.*3272G>A	ENSP00000507166.1:n.*3272G>A
ENST00000682669.1:c.6579G>A	ENSP00000507782.1:p.Gln2193=
ENST00000683186.1:c.*3543G>A	ENSP00000507268.1:n.*3543G>A
ENST00000683496.1:c.*422G>A	ENSP00000506968.1:n.*422G>A
ENST00000683734.1:c.*730G>A	ENSP00000508319.1:n.*730G>A
ENST00000683753.1:n.5826G>A
ENST00000684038.1:c.*3200G>A	ENSP00000507141.1:n.*3200G>A
ENST00000684235.1:c.6780G>A	ENSP00000508295.1:p.Gln2260=
XM_005254695.3:c.6522G>A	XP_005254752.1:p.Gln2174=
XM_006720700.1:c.6636G>A	XP_006720763.1:p.Gln2212=
XM_017022634.1:c.6672G>A	XP_016878123.1:p.Gln2224=
XM_017022636.1:c.3657G>A	XP_016878125.1:p.Gln1219=