Canonical Allele Identifier: CA392218951

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44867190T>A (hg19) ; chr15:g.44574992T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574992T>A , CM000677.2:g.44574992T>A	GRCh38
NC_000015.9:g.44867190T>A , CM000677.1:g.44867190T>A	GRCh37
NC_000015.8:g.42654482T>A	NCBI36
NG_008885.1:g.93687A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4334A>T	ENSP00000453246.2:n.5867-4334A>T
ENST00000561391.2:n.2144A>T
ENST00000682065.1:c.5772A>T	ENSP00000507025.1:p.Glu1924Asp
ENST00000682460.1:c.*2173A>T	ENSP00000508334.1:n.*2173A>T
ENST00000682495.1:c.*2408A>T	ENSP00000507166.1:n.*2408A>T
ENST00000682669.1:c.5715A>T	ENSP00000507782.1:p.Glu1905Asp
ENST00000683186.1:c.*2679A>T	ENSP00000507268.1:n.*2679A>T
ENST00000683496.1:c.5916A>T	ENSP00000506968.1:p.Glu1972Asp
ENST00000683734.1:c.5867-1247A>T	ENSP00000508319.1:n.5867-1247A>T
ENST00000683753.1:n.4962A>T
ENST00000684038.1:c.*2336A>T	ENSP00000507141.1:n.*2336A>T
ENST00000684235.1:c.5916A>T	ENSP00000508295.1:p.Glu1972Asp
ENST00000684676.1:c.*65A>T	ENSP00000506948.1:n.*65A>T
ENST00000261866.12:c.5916A>T MANE Select	ENSP00000261866.7:p.Glu1972Asp
ENST00000261866.11:c.5916A>T	ENSP00000261866.7:p.Glu1972Asp
ENST00000427534.6:c.5916A>T	ENSP00000396110.2:p.Glu1972Asp
ENST00000535302.6:c.5867-2172A>T	ENSP00000445278.2:n.5867-2172A>T
ENST00000558080.1:n.281A>T
ENST00000558319.5:c.5916A>T	ENSP00000453599.1:p.Glu1972Asp
ENST00000559511.5:c.715-4334A>T
ENST00000559822.1:c.459A>T
NM_001160227.1:c.5867-2172A>T	NP_001153699.1:n.5867-2172A>T
NM_025137.3:c.5916A>T	NP_079413.3:p.Glu1972Asp
XM_005254695.3:c.5658A>T	XP_005254752.1:p.Glu1886Asp
XM_006720700.1:c.5772A>T	XP_006720763.1:p.Glu1924Asp
XM_017022634.1:c.5916A>T	XP_016878123.1:p.Glu1972Asp
XM_017022636.1:c.2793A>T	XP_016878125.1:p.Glu931Asp
NM_025137.4:c.5916A>T MANE Select	NP_079413.3:p.Glu1972Asp
NM_001160227.2:c.5867-2172A>T	NP_001153699.1:n.5867-2172A>T