Canonical Allele Identifier: CA392218131

Gene: SPG11

Linked Data

• gnomAD v4: 15-44573568-G-A
• MyVariant Identifiers: chr15:g.44865766G>A (hg19) ; chr15:g.44573568G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573568G>A , CM000677.2:g.44573568G>A	GRCh38
NC_000015.9:g.44865766G>A , CM000677.1:g.44865766G>A	GRCh37
NC_000015.8:g.42653058G>A	NCBI36
NG_008885.1:g.95111C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-2910C>T	ENSP00000453246.2:n.5867-2910C>T
ENST00000561391.2:n.2412C>T
ENST00000682065.1:c.6040C>T	ENSP00000507025.1:p.Leu2014Phe
ENST00000682460.1:c.*2441C>T	ENSP00000508334.1:n.*2441C>T
ENST00000682495.1:c.*2676C>T	ENSP00000507166.1:n.*2676C>T
ENST00000682669.1:c.5983C>T	ENSP00000507782.1:p.Leu1995Phe
ENST00000683186.1:c.*2947C>T	ENSP00000507268.1:n.*2947C>T
ENST00000683496.1:c.6006+1334C>T	ENSP00000506968.1:n.6006+1334C>T
ENST00000683734.1:c.*134C>T	ENSP00000508319.1:n.*134C>T
ENST00000683753.1:n.5230C>T
ENST00000684038.1:c.*2604C>T	ENSP00000507141.1:n.*2604C>T
ENST00000684235.1:c.6184C>T	ENSP00000508295.1:p.Leu2062Phe
ENST00000684676.1:c.*333C>T	ENSP00000506948.1:n.*333C>T
ENST00000261866.12:c.6184C>T MANE Select	ENSP00000261866.7:p.Leu2062Phe
ENST00000261866.11:c.6184C>T	ENSP00000261866.7:p.Leu2062Phe
ENST00000427534.6:c.6184C>T	ENSP00000396110.2:p.Leu2062Phe
ENST00000535302.6:c.5867-748C>T	ENSP00000445278.2:n.5867-748C>T
ENST00000558080.1:n.549C>T
ENST00000558319.5:c.6184C>T	ENSP00000453599.1:p.Leu2062Phe
ENST00000559511.5:c.715-2910C>T
ENST00000559933.1:n.253C>T
ENST00000561268.5:n.116C>T
NM_001160227.1:c.5867-748C>T	NP_001153699.1:n.5867-748C>T
NM_025137.3:c.6184C>T	NP_079413.3:p.Leu2062Phe
XM_005254695.3:c.5926C>T	XP_005254752.1:p.Leu1976Phe
XM_006720700.1:c.6040C>T	XP_006720763.1:p.Leu2014Phe
XM_017022634.1:c.6184C>T	XP_016878123.1:p.Leu2062Phe
XM_017022636.1:c.3061C>T	XP_016878125.1:p.Leu1021Phe
NM_025137.4:c.6184C>T MANE Select	NP_079413.3:p.Leu2062Phe
NM_001160227.2:c.5867-748C>T	NP_001153699.1:n.5867-748C>T