Canonical Allele Identifier: CA392218614

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44867123G>T (hg19) ; chr15:g.44574925G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574925G>T , CM000677.2:g.44574925G>T	GRCh38
NC_000015.9:g.44867123G>T , CM000677.1:g.44867123G>T	GRCh37
NC_000015.8:g.42654415G>T	NCBI36
NG_008885.1:g.93754C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559511.6:c.5867-4267C>A	ENSP00000453246.2:n.5867-4267C>A
ENST00000561391.2:n.2211C>A
ENST00000682065.1:c.5839C>A	ENSP00000507025.1:p.Leu1947Ile
ENST00000682460.1:c.*2240C>A	ENSP00000508334.1:n.*2240C>A
ENST00000682495.1:c.*2475C>A	ENSP00000507166.1:n.*2475C>A
ENST00000682669.1:c.5782C>A	ENSP00000507782.1:p.Leu1928Ile
ENST00000683186.1:c.*2746C>A	ENSP00000507268.1:n.*2746C>A
ENST00000683496.1:c.5983C>A	ENSP00000506968.1:p.Leu1995Ile
ENST00000683734.1:c.5867-1180C>A	ENSP00000508319.1:n.5867-1180C>A
ENST00000683753.1:n.5029C>A
ENST00000684038.1:c.*2403C>A	ENSP00000507141.1:n.*2403C>A
ENST00000684235.1:c.5983C>A	ENSP00000508295.1:p.Leu1995Ile
ENST00000684676.1:c.*132C>A	ENSP00000506948.1:n.*132C>A
ENST00000261866.12:c.5983C>A MANE Select	ENSP00000261866.7:p.Leu1995Ile
ENST00000261866.11:c.5983C>A	ENSP00000261866.7:p.Leu1995Ile
ENST00000427534.6:c.5983C>A	ENSP00000396110.2:p.Leu1995Ile
ENST00000535302.6:c.5867-2105C>A	ENSP00000445278.2:n.5867-2105C>A
ENST00000558080.1:n.348C>A
ENST00000558319.5:c.5983C>A	ENSP00000453599.1:p.Leu1995Ile
ENST00000559511.5:c.715-4267C>A
ENST00000559822.1:c.526C>A
NM_001160227.1:c.5867-2105C>A	NP_001153699.1:n.5867-2105C>A
NM_025137.3:c.5983C>A	NP_079413.3:p.Leu1995Ile
XM_005254695.3:c.5725C>A	XP_005254752.1:p.Leu1909Ile
XM_006720700.1:c.5839C>A	XP_006720763.1:p.Leu1947Ile
XM_017022634.1:c.5983C>A	XP_016878123.1:p.Leu1995Ile
XM_017022636.1:c.2860C>A	XP_016878125.1:p.Leu954Ile
NM_025137.4:c.5983C>A MANE Select	NP_079413.3:p.Leu1995Ile
NM_001160227.2:c.5867-2105C>A	NP_001153699.1:n.5867-2105C>A