Canonical Allele Identifier: CA392219078

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44867210T>G (hg19) ; chr15:g.44575012T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44575012T>G , CM000677.2:g.44575012T>G	GRCh38
NC_000015.9:g.44867210T>G , CM000677.1:g.44867210T>G	GRCh37
NC_000015.8:g.42654502T>G	NCBI36
NG_008885.1:g.93667A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4354A>C	ENSP00000453246.2:n.5867-4354A>C
ENST00000561391.2:n.2124A>C
ENST00000682065.1:c.5752A>C	ENSP00000507025.1:p.Thr1918Pro
ENST00000682460.1:c.*2153A>C	ENSP00000508334.1:n.*2153A>C
ENST00000682495.1:c.*2388A>C	ENSP00000507166.1:n.*2388A>C
ENST00000682669.1:c.5695A>C	ENSP00000507782.1:p.Thr1899Pro
ENST00000683186.1:c.*2659A>C	ENSP00000507268.1:n.*2659A>C
ENST00000683496.1:c.5896A>C	ENSP00000506968.1:p.Thr1966Pro
ENST00000683734.1:c.5867-1267A>C	ENSP00000508319.1:n.5867-1267A>C
ENST00000683753.1:n.4942A>C
ENST00000684038.1:c.*2316A>C	ENSP00000507141.1:n.*2316A>C
ENST00000684235.1:c.5896A>C	ENSP00000508295.1:p.Thr1966Pro
ENST00000684676.1:c.*45A>C	ENSP00000506948.1:n.*45A>C
ENST00000261866.12:c.5896A>C MANE Select	ENSP00000261866.7:p.Thr1966Pro
ENST00000261866.11:c.5896A>C	ENSP00000261866.7:p.Thr1966Pro
ENST00000427534.6:c.5896A>C	ENSP00000396110.2:p.Thr1966Pro
ENST00000535302.6:c.5867-2192A>C	ENSP00000445278.2:n.5867-2192A>C
ENST00000558080.1:n.261A>C
ENST00000558319.5:c.5896A>C	ENSP00000453599.1:p.Thr1966Pro
ENST00000559511.5:c.715-4354A>C
ENST00000559822.1:c.439A>C
NM_001160227.1:c.5867-2192A>C	NP_001153699.1:n.5867-2192A>C
NM_025137.3:c.5896A>C	NP_079413.3:p.Thr1966Pro
XM_005254695.3:c.5638A>C	XP_005254752.1:p.Thr1880Pro
XM_006720700.1:c.5752A>C	XP_006720763.1:p.Thr1918Pro
XM_017022634.1:c.5896A>C	XP_016878123.1:p.Thr1966Pro
XM_017022636.1:c.2773A>C	XP_016878125.1:p.Thr925Pro
NM_025137.4:c.5896A>C MANE Select	NP_079413.3:p.Thr1966Pro
NM_001160227.2:c.5867-2192A>C	NP_001153699.1:n.5867-2192A>C