Canonical Allele Identifier: CA7534035

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44567452T>C , CM000677.2:g.44567452T>C	GRCh38
NC_000015.9:g.44859650T>C , CM000677.1:g.44859650T>C	GRCh37
NC_000015.8:g.42646942T>C	NCBI36
NG_008885.1:g.101227A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.6726A>G MANE Select	NP_079413.3:p.Gln2242=
ENST00000261866.12:c.6726A>G MANE Select	ENSP00000261866.7:p.Gln2242=
NM_001160227.1:c.6387A>G	NP_001153699.1:p.Gln2129=
NM_001160227.2:c.6387A>G	NP_001153699.1:p.Gln2129=
NM_025137.3:c.6726A>G	NP_079413.3:p.Gln2242=
ENST00000261866.11:c.6726A>G	ENSP00000261866.7:p.Gln2242=
ENST00000427534.6:c.6726A>G	ENSP00000396110.2:p.Gln2242=
ENST00000535302.6:c.6387A>G	ENSP00000445278.2:p.Gln2129=
ENST00000558138.1:c.417A>G	ENSP00000453314.1:p.Gln139=
ENST00000558138.2:c.417A>G	ENSP00000453314.2:p.Gln139=
ENST00000559347.1:n.555A>G
ENST00000559511.5:c.1097A>G
ENST00000559511.6:c.6249A>G	ENSP00000453246.2:p.Gln2083=
ENST00000561268.5:n.416A>G
ENST00000682065.1:c.6582A>G	ENSP00000507025.1:p.Gln2194=
ENST00000682460.1:c.*2983A>G	ENSP00000508334.1:n.*2983A>G
ENST00000682495.1:c.*3218A>G	ENSP00000507166.1:n.*3218A>G
ENST00000682669.1:c.6525A>G	ENSP00000507782.1:p.Gln2175=
ENST00000683186.1:c.*3489A>G	ENSP00000507268.1:n.*3489A>G
ENST00000683496.1:c.*368A>G	ENSP00000506968.1:n.*368A>G
ENST00000683734.1:c.*676A>G	ENSP00000508319.1:n.*676A>G
ENST00000683753.1:n.5772A>G
ENST00000684038.1:c.*3146A>G	ENSP00000507141.1:n.*3146A>G
ENST00000684235.1:c.6726A>G	ENSP00000508295.1:p.Gln2242=
XM_005254695.3:c.6468A>G	XP_005254752.1:p.Gln2156=
XM_006720700.1:c.6582A>G	XP_006720763.1:p.Gln2194=
XM_017022634.1:c.6618A>G	XP_016878123.1:p.Gln2206=
XM_017022636.1:c.3603A>G	XP_016878125.1:p.Gln1201=