Canonical Allele Identifier: CA392213867

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44566282G>A , CM000677.2:g.44566282G>A	GRCh38
NC_000015.9:g.44858480G>A , CM000677.1:g.44858480G>A	GRCh37
NC_000015.8:g.42645772G>A	NCBI36
NG_008885.1:g.102397C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.6778C>T MANE Select	NP_079413.3:p.Gln2260Ter
ENST00000261866.12:c.6778C>T MANE Select	ENSP00000261866.7:p.Gln2260Ter
NM_001160227.1:c.6439C>T	NP_001153699.1:p.Gln2147Ter
NM_001160227.2:c.6439C>T	NP_001153699.1:p.Gln2147Ter
NM_025137.3:c.6778C>T	NP_079413.3:p.Gln2260Ter
ENST00000261866.11:c.6778C>T	ENSP00000261866.7:p.Gln2260Ter
ENST00000427534.6:c.6754+1142C>T	ENSP00000396110.2:n.6754+1142C>T
ENST00000535302.6:c.6439C>T	ENSP00000445278.2:p.Gln2147Ter
ENST00000558138.1:c.469C>T	ENSP00000453314.1:p.Gln157Ter
ENST00000558138.2:c.469C>T	ENSP00000453314.2:p.Gln157Ter
ENST00000559347.1:n.607C>T
ENST00000559511.5:c.1149C>T
ENST00000559511.6:c.6301C>T	ENSP00000453246.2:p.Gln2101Ter
ENST00000682065.1:c.6634C>T	ENSP00000507025.1:p.Gln2212Ter
ENST00000682460.1:c.*3035C>T	ENSP00000508334.1:n.*3035C>T
ENST00000682495.1:c.*3270C>T	ENSP00000507166.1:n.*3270C>T
ENST00000682669.1:c.6577C>T	ENSP00000507782.1:p.Gln2193Ter
ENST00000683186.1:c.*3541C>T	ENSP00000507268.1:n.*3541C>T
ENST00000683496.1:c.*420C>T	ENSP00000506968.1:n.*420C>T
ENST00000683734.1:c.*728C>T	ENSP00000508319.1:n.*728C>T
ENST00000683753.1:n.5824C>T
ENST00000684038.1:c.*3198C>T	ENSP00000507141.1:n.*3198C>T
ENST00000684235.1:c.6778C>T	ENSP00000508295.1:p.Gln2260Ter
XM_005254695.3:c.6520C>T	XP_005254752.1:p.Gln2174Ter
XM_006720700.1:c.6634C>T	XP_006720763.1:p.Gln2212Ter
XM_017022634.1:c.6670C>T	XP_016878123.1:p.Gln2224Ter
XM_017022636.1:c.3655C>T	XP_016878125.1:p.Gln1219Ter