Canonical Allele Identifier: CA392218931

Gene: SPG11

Linked Data

• gnomAD v4: 15-44574988-C-T
• MyVariant Identifiers: chr15:g.44867186C>T (hg19) ; chr15:g.44574988C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574988C>T , CM000677.2:g.44574988C>T	GRCh38
NC_000015.9:g.44867186C>T , CM000677.1:g.44867186C>T	GRCh37
NC_000015.8:g.42654478C>T	NCBI36
NG_008885.1:g.93691G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4330G>A	ENSP00000453246.2:n.5867-4330G>A
ENST00000561391.2:n.2148G>A
ENST00000682065.1:c.5776G>A	ENSP00000507025.1:p.Val1926Ile
ENST00000682460.1:c.*2177G>A	ENSP00000508334.1:n.*2177G>A
ENST00000682495.1:c.*2412G>A	ENSP00000507166.1:n.*2412G>A
ENST00000682669.1:c.5719G>A	ENSP00000507782.1:p.Val1907Ile
ENST00000683186.1:c.*2683G>A	ENSP00000507268.1:n.*2683G>A
ENST00000683496.1:c.5920G>A	ENSP00000506968.1:p.Val1974Ile
ENST00000683734.1:c.5867-1243G>A	ENSP00000508319.1:n.5867-1243G>A
ENST00000683753.1:n.4966G>A
ENST00000684038.1:c.*2340G>A	ENSP00000507141.1:n.*2340G>A
ENST00000684235.1:c.5920G>A	ENSP00000508295.1:p.Val1974Ile
ENST00000684676.1:c.*69G>A	ENSP00000506948.1:n.*69G>A
ENST00000261866.12:c.5920G>A MANE Select	ENSP00000261866.7:p.Val1974Ile
ENST00000261866.11:c.5920G>A	ENSP00000261866.7:p.Val1974Ile
ENST00000427534.6:c.5920G>A	ENSP00000396110.2:p.Val1974Ile
ENST00000535302.6:c.5867-2168G>A	ENSP00000445278.2:n.5867-2168G>A
ENST00000558080.1:n.285G>A
ENST00000558319.5:c.5920G>A	ENSP00000453599.1:p.Val1974Ile
ENST00000559511.5:c.715-4330G>A
ENST00000559822.1:c.463G>A
NM_001160227.1:c.5867-2168G>A	NP_001153699.1:n.5867-2168G>A
NM_025137.3:c.5920G>A	NP_079413.3:p.Val1974Ile
XM_005254695.3:c.5662G>A	XP_005254752.1:p.Val1888Ile
XM_006720700.1:c.5776G>A	XP_006720763.1:p.Val1926Ile
XM_017022634.1:c.5920G>A	XP_016878123.1:p.Val1974Ile
XM_017022636.1:c.2797G>A	XP_016878125.1:p.Val933Ile
NM_025137.4:c.5920G>A MANE Select	NP_079413.3:p.Val1974Ile
NM_001160227.2:c.5867-2168G>A	NP_001153699.1:n.5867-2168G>A