Canonical Allele Identifier: CA618006018

Gene: SPG11

Linked Data

• ClinVar Variation Id: 1214745
• ClinVar RCV Id: RCV001583835
• dbSNP Id: rs1370132680
• gnomAD v2: 15-44859547-C-A
• gnomAD v3: 15-44567349-C-A
• gnomAD v4: 15-44567349-C-A
• MyVariant Identifiers: chr15:g.44859547C>A (hg19) ; chr15:g.44859547_44859549delinsAAA (hg19) ; chr15:g.44567349C>A (hg38) ; chr15:g.44567349_44567351delinsAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44567349C>A , CM000677.2:g.44567349C>A	GRCh38
NC_000015.9:g.44859547C>A , CM000677.1:g.44859547C>A	GRCh37
NC_000015.8:g.42646839C>A	NCBI36
NG_008885.1:g.101330G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000558138.2:c.445+75G>T	ENSP00000453314.2:n.445+75G>T
ENST00000559511.6:c.6277+75G>T	ENSP00000453246.2:n.6277+75G>T
ENST00000682065.1:c.6610+75G>T	ENSP00000507025.1:n.6610+75G>T
ENST00000682460.1:c.*3011+75G>T	ENSP00000508334.1:n.*3011+75G>T
ENST00000682495.1:c.*3246+75G>T	ENSP00000507166.1:n.*3246+75G>T
ENST00000682669.1:c.6553+75G>T	ENSP00000507782.1:n.6553+75G>T
ENST00000683186.1:c.*3517+75G>T	ENSP00000507268.1:n.*3517+75G>T
ENST00000683496.1:c.*396+75G>T	ENSP00000506968.1:n.*396+75G>T
ENST00000683734.1:c.*704+75G>T	ENSP00000508319.1:n.*704+75G>T
ENST00000683753.1:n.5800+75G>T
ENST00000684038.1:c.*3174+75G>T	ENSP00000507141.1:n.*3174+75G>T
ENST00000684235.1:c.6754+75G>T	ENSP00000508295.1:n.6754+75G>T
ENST00000261866.12:c.6754+75G>T MANE Select	ENSP00000261866.7:n.6754+75G>T
ENST00000261866.11:c.6754+75G>T	ENSP00000261866.7:n.6754+75G>T
ENST00000427534.6:c.6754+75G>T	ENSP00000396110.2:n.6754+75G>T
ENST00000535302.6:c.6415+75G>T	ENSP00000445278.2:n.6415+75G>T
ENST00000558138.1:c.445+75G>T	ENSP00000453314.1:n.445+75G>T
ENST00000559347.1:n.583+75G>T
ENST00000559511.5:c.1125+75G>T
ENST00000561268.5:n.519G>T
NM_001160227.1:c.6415+75G>T	NP_001153699.1:n.6415+75G>T
NM_025137.3:c.6754+75G>T	NP_079413.3:n.6754+75G>T
XM_005254695.3:c.6496+75G>T	XP_005254752.1:n.6496+75G>T
XM_006720700.1:c.6610+75G>T	XP_006720763.1:n.6610+75G>T
XM_017022634.1:c.6646+75G>T	XP_016878123.1:n.6646+75G>T
XM_017022636.1:c.3631+75G>T	XP_016878125.1:n.3631+75G>T
NM_025137.4:c.6754+75G>T MANE Select	NP_079413.3:n.6754+75G>T
NM_001160227.2:c.6415+75G>T	NP_001153699.1:n.6415+75G>T