Canonical Allele Identifier: CA392235842

Gene: SPG11

Linked Data

• ClinVar Variation Id: 1344074
• ClinVar RCV Id: RCV001848177
• dbSNP Id: rs2141105806
• MyVariant Identifiers: chr15:g.44943710G>A (hg19) ; chr15:g.44651512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44651512G>A , CM000677.2:g.44651512G>A	GRCh38
NC_000015.9:g.44943710G>A , CM000677.1:g.44943710G>A	GRCh37
NC_000015.8:g.42731002G>A	NCBI36
NG_008885.1:g.17167C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.1435C>T	ENSP00000453246.2:p.Gln479Ter
ENST00000682065.1:c.1435C>T	ENSP00000507025.1:p.Gln479Ter
ENST00000682410.1:n.1464C>T
ENST00000682460.1:c.1435C>T	ENSP00000508334.1:p.Gln479Ter
ENST00000682495.1:c.1435C>T	ENSP00000507166.1:p.Gln479Ter
ENST00000682648.1:n.1380C>T
ENST00000682669.1:c.1435C>T	ENSP00000507782.1:p.Gln479Ter
ENST00000682788.1:c.1435C>T	ENSP00000508089.1:p.Gln479Ter
ENST00000682877.1:n.1466C>T
ENST00000682915.1:c.1435C>T	ENSP00000507493.1:p.Gln479Ter
ENST00000683121.1:c.1435C>T	ENSP00000507557.1:p.Gln479Ter
ENST00000683186.1:c.1435C>T	ENSP00000507268.1:p.Gln479Ter
ENST00000683255.1:c.1435C>T	ENSP00000508340.1:p.Gln479Ter
ENST00000683496.1:c.1435C>T	ENSP00000506968.1:p.Gln479Ter
ENST00000683573.1:c.1435C>T	ENSP00000508031.1:p.Gln479Ter
ENST00000683734.1:c.1435C>T	ENSP00000508319.1:p.Gln479Ter
ENST00000683753.1:n.559C>T
ENST00000684038.1:c.1177C>T	ENSP00000507141.1:p.Gln393Ter
ENST00000684235.1:c.1435C>T	ENSP00000508295.1:p.Gln479Ter
ENST00000684490.1:n.1450C>T
ENST00000684676.1:c.1435C>T	ENSP00000506948.1:p.Gln479Ter
ENST00000261866.12:c.1435C>T MANE Select	ENSP00000261866.7:p.Gln479Ter
ENST00000261866.11:c.1435C>T	ENSP00000261866.7:p.Gln479Ter
ENST00000427534.6:c.1435C>T	ENSP00000396110.2:p.Gln479Ter
ENST00000535302.6:c.1435C>T	ENSP00000445278.2:p.Gln479Ter
ENST00000557866.1:c.133C>T	ENSP00000453227.1:p.Gln45Ter
ENST00000558319.5:c.1435C>T	ENSP00000453599.1:p.Gln479Ter
ENST00000559193.5:c.1435C>T	ENSP00000453848.1:p.Gln479Ter
NM_001160227.1:c.1435C>T	NP_001153699.1:p.Gln479Ter
NM_025137.3:c.1435C>T	NP_079413.3:p.Gln479Ter
XM_005254695.3:c.1177C>T	XP_005254752.1:p.Gln393Ter
XM_006720700.1:c.1435C>T	XP_006720763.1:p.Gln479Ter
XM_006720701.2:c.1435C>T	XP_006720764.1:p.Gln479Ter
XM_011522093.1:c.1435C>T	XP_011520395.1:p.Gln479Ter
XR_931917.1:n.1466C>T
XM_006720701.3:c.1435C>T	XP_006720764.1:p.Gln479Ter
XM_017022634.1:c.1435C>T	XP_016878123.1:p.Gln479Ter
XM_017022635.2:c.1435C>T	XP_016878124.1:p.Gln479Ter
XR_001751402.1:n.1466C>T
XR_931917.2:n.1466C>T
NM_025137.4:c.1435C>T MANE Select	NP_079413.3:p.Gln479Ter
NM_001160227.2:c.1435C>T	NP_001153699.1:p.Gln479Ter