Canonical Allele Identifier: CA392222234

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44876332A>T (hg19) ; chr15:g.44584134A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584134A>T , CM000677.2:g.44584134A>T	GRCh38
NC_000015.9:g.44876332A>T , CM000677.1:g.44876332A>T	GRCh37
NC_000015.8:g.42663624A>T	NCBI36
NG_008885.1:g.84545T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5546T>A	ENSP00000453246.2:p.Leu1849Gln
ENST00000561391.2:n.1774T>A
ENST00000682065.1:c.5402T>A	ENSP00000507025.1:p.Leu1801Gln
ENST00000682460.1:c.*1803T>A	ENSP00000508334.1:n.*1803T>A
ENST00000682495.1:c.*2038T>A	ENSP00000507166.1:n.*2038T>A
ENST00000682669.1:c.5345T>A	ENSP00000507782.1:p.Leu1782Gln
ENST00000683186.1:c.*2309T>A	ENSP00000507268.1:n.*2309T>A
ENST00000683496.1:c.5546T>A	ENSP00000506968.1:p.Leu1849Gln
ENST00000683734.1:c.5546T>A	ENSP00000508319.1:p.Leu1849Gln
ENST00000683753.1:n.4592T>A
ENST00000684038.1:c.*1966T>A	ENSP00000507141.1:n.*1966T>A
ENST00000684235.1:c.5546T>A	ENSP00000508295.1:p.Leu1849Gln
ENST00000684676.1:c.5515+31T>A	ENSP00000506948.1:n.5515+31T>A
ENST00000261866.12:c.5546T>A MANE Select	ENSP00000261866.7:p.Leu1849Gln
ENST00000261866.11:c.5546T>A	ENSP00000261866.7:p.Leu1849Gln
ENST00000427534.6:c.5546T>A	ENSP00000396110.2:p.Leu1849Gln
ENST00000535302.6:c.5546T>A	ENSP00000445278.2:p.Leu1849Gln
ENST00000558319.5:c.5546T>A	ENSP00000453599.1:p.Leu1849Gln
ENST00000559511.5:c.394T>A
ENST00000559822.1:c.287+31T>A
NM_001160227.1:c.5546T>A	NP_001153699.1:p.Leu1849Gln
NM_025137.3:c.5546T>A	NP_079413.3:p.Leu1849Gln
XM_005254695.3:c.5288T>A	XP_005254752.1:p.Leu1763Gln
XM_006720700.1:c.5402T>A	XP_006720763.1:p.Leu1801Gln
XM_017022634.1:c.5546T>A	XP_016878123.1:p.Leu1849Gln
XM_017022636.1:c.2423T>A	XP_016878125.1:p.Leu808Gln
NM_025137.4:c.5546T>A MANE Select	NP_079413.3:p.Leu1849Gln
NM_001160227.2:c.5546T>A	NP_001153699.1:p.Leu1849Gln