Canonical Allele Identifier: CA392216276

Gene: SPG11

Linked Data

• dbSNP Id: rs2082400958
• gnomAD v4: 15-44570547-G-A
• MyVariant Identifiers: chr15:g.44862745G>A (hg19) ; chr15:g.44570547G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570547G>A , CM000677.2:g.44570547G>A	GRCh38
NC_000015.9:g.44862745G>A , CM000677.1:g.44862745G>A	GRCh37
NC_000015.8:g.42650037G>A	NCBI36
NG_008885.1:g.98132C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.254C>T	ENSP00000453314.2:p.Pro85Leu
ENST00000559511.6:c.5978C>T	ENSP00000453246.2:p.Pro1993Leu
ENST00000682065.1:c.6311C>T	ENSP00000507025.1:p.Pro2104Leu
ENST00000682460.1:c.*2712C>T	ENSP00000508334.1:n.*2712C>T
ENST00000682495.1:c.*2947C>T	ENSP00000507166.1:n.*2947C>T
ENST00000682669.1:c.6254C>T	ENSP00000507782.1:p.Pro2085Leu
ENST00000683186.1:c.*3218C>T	ENSP00000507268.1:n.*3218C>T
ENST00000683496.1:c.*97C>T	ENSP00000506968.1:n.*97C>T
ENST00000683734.1:c.*405C>T	ENSP00000508319.1:n.*405C>T
ENST00000683753.1:n.5501C>T
ENST00000684038.1:c.*2875C>T	ENSP00000507141.1:n.*2875C>T
ENST00000684235.1:c.6455C>T	ENSP00000508295.1:p.Pro2152Leu
ENST00000261866.12:c.6455C>T MANE Select	ENSP00000261866.7:p.Pro2152Leu
ENST00000261866.11:c.6455C>T	ENSP00000261866.7:p.Pro2152Leu
ENST00000427534.6:c.6455C>T	ENSP00000396110.2:p.Pro2152Leu
ENST00000535302.6:c.6116C>T	ENSP00000445278.2:p.Pro2039Leu
ENST00000558138.1:c.254C>T	ENSP00000453314.1:p.Pro85Leu
ENST00000559347.1:n.284C>T
ENST00000559511.5:c.826C>T
ENST00000561268.5:n.275+2136C>T
NM_001160227.1:c.6116C>T	NP_001153699.1:p.Pro2039Leu
NM_025137.3:c.6455C>T	NP_079413.3:p.Pro2152Leu
XM_005254695.3:c.6197C>T	XP_005254752.1:p.Pro2066Leu
XM_006720700.1:c.6311C>T	XP_006720763.1:p.Pro2104Leu
XM_017022634.1:c.6455C>T	XP_016878123.1:p.Pro2152Leu
XM_017022636.1:c.3332C>T	XP_016878125.1:p.Pro1111Leu
NM_025137.4:c.6455C>T MANE Select	NP_079413.3:p.Pro2152Leu
NM_001160227.2:c.6116C>T	NP_001153699.1:p.Pro2039Leu