Canonical Allele Identifier: CA392211876

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44855490T>G (hg19) ; chr15:g.44563292T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44563292T>G , CM000677.2:g.44563292T>G	GRCh38
NC_000015.9:g.44855490T>G , CM000677.1:g.44855490T>G	GRCh37
NC_000015.8:g.42642782T>G	NCBI36
NG_008885.1:g.105387A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.852A>C	ENSP00000453314.2:p.Gln284His
ENST00000559511.6:c.6684A>C	ENSP00000453246.2:p.Gln2228His
ENST00000682065.1:c.7017A>C	ENSP00000507025.1:p.Gln2339His
ENST00000682460.1:c.*3418A>C	ENSP00000508334.1:n.*3418A>C
ENST00000682495.1:c.*3653A>C	ENSP00000507166.1:n.*3653A>C
ENST00000682669.1:c.6960A>C	ENSP00000507782.1:p.Gln2320His
ENST00000683186.1:c.*3924A>C	ENSP00000507268.1:n.*3924A>C
ENST00000683496.1:c.*803A>C	ENSP00000506968.1:n.*803A>C
ENST00000683734.1:c.*1111A>C	ENSP00000508319.1:n.*1111A>C
ENST00000683753.1:n.6207A>C
ENST00000684038.1:c.*3581A>C	ENSP00000507141.1:n.*3581A>C
ENST00000684235.1:c.7151+1255A>C	ENSP00000508295.1:n.7151+1255A>C
ENST00000261866.12:c.7161A>C MANE Select	ENSP00000261866.7:p.Gln2387His
ENST00000261866.11:c.7161A>C	ENSP00000261866.7:p.Gln2387His
ENST00000427534.6:c.6764A>C	ENSP00000396110.2:p.Asn2255Thr
ENST00000535302.6:c.6822A>C	ENSP00000445278.2:p.Gln2274His
ENST00000559511.5:c.1532A>C
NM_001160227.1:c.6822A>C	NP_001153699.1:p.Gln2274His
NM_025137.3:c.7161A>C	NP_079413.3:p.Gln2387His
XM_005254695.3:c.6903A>C	XP_005254752.1:p.Gln2301His
XM_006720700.1:c.7017A>C	XP_006720763.1:p.Gln2339His
XM_017022634.1:c.7053A>C	XP_016878123.1:p.Gln2351His
XM_017022636.1:c.4038A>C	XP_016878125.1:p.Gln1346His
NM_025137.4:c.7161A>C MANE Select	NP_079413.3:p.Gln2387His
NM_001160227.2:c.6822A>C	NP_001153699.1:p.Gln2274His