Canonical Allele Identifier: CA7534720
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 466527
dbSNP Id: rs191148548

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44596256C>T , CM000677.2:g.44596256C>T GRCh38
NC_000015.9:g.44888454C>T , CM000677.1:g.44888454C>T GRCh37
NC_000015.8:g.42675746C>T NCBI36
NG_008885.1:g.72423G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.4261G>A ENSP00000453246.2:p.Asp1421Asn
ENST00000561391.2:n.489G>A
ENST00000682065.1:c.4261G>A ENSP00000507025.1:p.Asp1421Asn
ENST00000682460.1:c.*681G>A ENSP00000508334.1:n.*681G>A
ENST00000682495.1:c.*753G>A ENSP00000507166.1:n.*753G>A
ENST00000682669.1:c.4060G>A ENSP00000507782.1:p.Asp1354Asn
ENST00000682788.1:c.4261G>A ENSP00000508089.1:p.Asp1421Asn
ENST00000683121.1:c.4261G>A ENSP00000507557.1:p.Asp1421Asn
ENST00000683186.1:c.*1024G>A ENSP00000507268.1:n.*1024G>A
ENST00000683496.1:c.4261G>A ENSP00000506968.1:p.Asp1421Asn
ENST00000683734.1:c.4261G>A ENSP00000508319.1:p.Asp1421Asn
ENST00000683753.1:n.3307G>A
ENST00000684038.1:c.*681G>A ENSP00000507141.1:n.*681G>A
ENST00000684235.1:c.4261G>A ENSP00000508295.1:p.Asp1421Asn
ENST00000684676.1:c.4261G>A ENSP00000506948.1:p.Asp1421Asn
ENST00000261866.12:c.4261G>A MANE Select ENSP00000261866.7:p.Asp1421Asn
ENST00000261866.11:c.4261G>A ENSP00000261866.7:p.Asp1421Asn
ENST00000427534.6:c.4261G>A ENSP00000396110.2:p.Asp1421Asn
ENST00000535302.6:c.4261G>A ENSP00000445278.2:p.Asp1421Asn
ENST00000558155.1:c.91G>A ENSP00000453238.1:p.Asp31Asn
ENST00000558319.5:c.4261G>A ENSP00000453599.1:p.Asp1421Asn
ENST00000561391.1:n.489G>A
NM_001160227.1:c.4261G>A NP_001153699.1:p.Asp1421Asn
NM_025137.3:c.4261G>A NP_079413.3:p.Asp1421Asn
XM_005254695.3:c.4003G>A XP_005254752.1:p.Asp1335Asn
XM_006720700.1:c.4261G>A XP_006720763.1:p.Asp1421Asn
XM_006720701.2:c.4261G>A XP_006720764.1:p.Asp1421Asn
XR_931917.1:n.4292G>A
XM_006720701.3:c.4261G>A XP_006720764.1:p.Asp1421Asn
XM_017022634.1:c.4261G>A XP_016878123.1:p.Asp1421Asn
XM_017022635.2:c.4261G>A XP_016878124.1:p.Asp1421Asn
XM_017022636.1:c.1138G>A XP_016878125.1:p.Asp380Asn
XR_931917.2:n.4292G>A
NM_025137.4:c.4261G>A MANE Select NP_079413.3:p.Asp1421Asn
NM_001160227.2:c.4261G>A NP_001153699.1:p.Asp1421Asn