Canonical Allele Identifier: CA392230329

Gene: SPG11

Linked Data

• ClinVar Variation Id: 1375246
• ClinVar RCV Id: RCV001879574
• dbSNP Id: rs2140978285
• MyVariant Identifiers: chr15:g.44890979G>T (hg19) ; chr15:g.44598781G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44598781G>T , CM000677.2:g.44598781G>T	GRCh38
NC_000015.9:g.44890979G>T , CM000677.1:g.44890979G>T	GRCh37
NC_000015.8:g.42678271G>T	NCBI36
NG_008885.1:g.69898C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.3742C>A	ENSP00000453246.2:p.Pro1248Thr
ENST00000682065.1:c.3742C>A	ENSP00000507025.1:p.Pro1248Thr
ENST00000682460.1:c.*162C>A	ENSP00000508334.1:n.*162C>A
ENST00000682495.1:c.*234C>A	ENSP00000507166.1:n.*234C>A
ENST00000682669.1:c.3541C>A	ENSP00000507782.1:p.Pro1181Thr
ENST00000682788.1:c.3742C>A	ENSP00000508089.1:p.Pro1248Thr
ENST00000682915.1:c.3835C>A	ENSP00000507493.1:n.3835C>A
ENST00000683121.1:c.3742C>A	ENSP00000507557.1:p.Pro1248Thr
ENST00000683186.1:c.*505C>A	ENSP00000507268.1:n.*505C>A
ENST00000683496.1:c.3742C>A	ENSP00000506968.1:p.Pro1248Thr
ENST00000683734.1:c.3742C>A	ENSP00000508319.1:p.Pro1248Thr
ENST00000683753.1:n.2788C>A
ENST00000683838.1:n.816C>A
ENST00000684038.1:c.*162C>A	ENSP00000507141.1:n.*162C>A
ENST00000684235.1:c.3742C>A	ENSP00000508295.1:p.Pro1248Thr
ENST00000684676.1:c.3742C>A	ENSP00000506948.1:p.Pro1248Thr
ENST00000261866.12:c.3742C>A MANE Select	ENSP00000261866.7:p.Pro1248Thr
ENST00000261866.11:c.3742C>A	ENSP00000261866.7:p.Pro1248Thr
ENST00000427534.6:c.3742C>A	ENSP00000396110.2:p.Pro1248Thr
ENST00000535302.6:c.3742C>A	ENSP00000445278.2:p.Pro1248Thr
ENST00000558093.1:n.356C>A
ENST00000558319.5:c.3742C>A	ENSP00000453599.1:p.Pro1248Thr
NM_001160227.1:c.3742C>A	NP_001153699.1:p.Pro1248Thr
NM_025137.3:c.3742C>A	NP_079413.3:p.Pro1248Thr
XM_005254695.3:c.3484C>A	XP_005254752.1:p.Pro1162Thr
XM_006720700.1:c.3742C>A	XP_006720763.1:p.Pro1248Thr
XM_006720701.2:c.3742C>A	XP_006720764.1:p.Pro1248Thr
XM_011522093.1:c.3687-408C>A	XP_011520395.1:n.3687-408C>A
XR_931917.1:n.3773C>A
XM_006720701.3:c.3742C>A	XP_006720764.1:p.Pro1248Thr
XM_017022634.1:c.3742C>A	XP_016878123.1:p.Pro1248Thr
XM_017022635.2:c.3742C>A	XP_016878124.1:p.Pro1248Thr
XM_017022636.1:c.619C>A	XP_016878125.1:p.Pro207Thr
XR_001751402.1:n.3718-408C>A
XR_931917.2:n.3773C>A
NM_025137.4:c.3742C>A MANE Select	NP_079413.3:p.Pro1248Thr
NM_001160227.2:c.3742C>A	NP_001153699.1:p.Pro1248Thr