Canonical Allele Identifier: CA16614602

Gene: SPG11

Linked Data

• ClinVar Variation Id: 406523
• ClinVar RCV Id: RCV000457536
• dbSNP Id: rs1060501174
• MyVariant Identifiers: chr15:g.44859791C>A (hg19) ; chr15:g.44567593C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44567593C>A , CM000677.2:g.44567593C>A	GRCh38
NC_000015.9:g.44859791C>A , CM000677.1:g.44859791C>A	GRCh37
NC_000015.8:g.42647083C>A	NCBI36
NG_008885.1:g.101086G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.277-1G>T	ENSP00000453314.2:n.277-1G>T
ENST00000559511.6:c.6109-1G>T	ENSP00000453246.2:n.6109-1G>T
ENST00000682065.1:c.6442-1G>T	ENSP00000507025.1:n.6442-1G>T
ENST00000682460.1:c.*2843-1G>T	ENSP00000508334.1:n.*2843-1G>T
ENST00000682495.1:c.*3078-1G>T	ENSP00000507166.1:n.*3078-1G>T
ENST00000682669.1:c.6385-1G>T	ENSP00000507782.1:n.6385-1G>T
ENST00000683186.1:c.*3349-1G>T	ENSP00000507268.1:n.*3349-1G>T
ENST00000683496.1:c.*228-1G>T	ENSP00000506968.1:n.*228-1G>T
ENST00000683734.1:c.*536-1G>T	ENSP00000508319.1:n.*536-1G>T
ENST00000683753.1:n.5632-1G>T
ENST00000684038.1:c.*3006-1G>T	ENSP00000507141.1:n.*3006-1G>T
ENST00000684235.1:c.6586-1G>T	ENSP00000508295.1:n.6586-1G>T
ENST00000261866.12:c.6586-1G>T MANE Select	ENSP00000261866.7:n.6586-1G>T
ENST00000261866.11:c.6586-1G>T	ENSP00000261866.7:n.6586-1G>T
ENST00000427534.6:c.6586-1G>T	ENSP00000396110.2:n.6586-1G>T
ENST00000535302.6:c.6247-1G>T	ENSP00000445278.2:n.6247-1G>T
ENST00000558138.1:c.277-1G>T	ENSP00000453314.1:n.277-1G>T
ENST00000559347.1:n.415-1G>T
ENST00000559511.5:c.957-1G>T
ENST00000561268.5:n.276-1G>T
NM_001160227.1:c.6247-1G>T	NP_001153699.1:n.6247-1G>T
NM_025137.3:c.6586-1G>T	NP_079413.3:n.6586-1G>T
XM_005254695.3:c.6328-1G>T	XP_005254752.1:n.6328-1G>T
XM_006720700.1:c.6442-1G>T	XP_006720763.1:n.6442-1G>T
XM_017022634.1:c.6478-1G>T	XP_016878123.1:n.6478-1G>T
XM_017022636.1:c.3463-1G>T	XP_016878125.1:n.3463-1G>T
NM_025137.4:c.6586-1G>T MANE Select	NP_079413.3:n.6586-1G>T
NM_001160227.2:c.6247-1G>T	NP_001153699.1:n.6247-1G>T