Canonical Allele Identifier: CA346501409
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 468561
ClinVar RCV Id: RCV000536355
dbSNP Id: rs1553317025

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32128430C>G , CM000664.2:g.32128430C>G GRCh38
NC_000002.11:g.32353499C>G , CM000664.1:g.32353499C>G GRCh37
NC_000002.10:g.32207003C>G NCBI36
NG_008730.1:g.69820C>G , LRG_714:g.69820C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*856C>G ENSP00000515816.1:n.*856C>G
ENST00000315285.9:c.1196C>G MANE Select ENSP00000320885.3:p.Ser399Trp
ENST00000621856.2:c.1193C>G ENSP00000482496.2:p.Ser398Trp
ENST00000642281.1:c.983-8133C>G
ENST00000642455.1:c.1097C>G ENSP00000493827.1:p.Ser366Trp
ENST00000642751.1:c.970C>G
ENST00000642999.1:c.938C>G ENSP00000496589.1:p.Ser313Trp
ENST00000643327.1:c.355C>G
ENST00000643334.1:c.776C>G
ENST00000644408.1:c.1072C>G
ENST00000644954.1:c.842C>G ENSP00000494312.1:p.Ser281Trp
ENST00000645159.1:n.1933C>G
ENST00000645550.1:n.409C>G
ENST00000645671.1:c.646C>G
ENST00000645730.1:c.543C>G
ENST00000646082.1:c.842C>G
ENST00000646571.1:c.1100C>G ENSP00000495015.1:p.Ser367Trp
ENST00000647007.1:n.888C>G
ENST00000647133.1:c.696C>G
ENST00000315285.7:c.1196C>G ENSP00000320885.3:p.Ser399Trp
ENST00000345662.5:c.1100C>G ENSP00000340817.1:p.Ser367Trp
ENST00000615843.4:c.1196C>G ENSP00000480893.1:p.Ser399Trp
ENST00000621856.1:c.938C>G ENSP00000482496.1:p.Ser313Trp
NM_014946.3:c.1196C>G , LRG_714t1:c.1196C>G NP_055761.2:p.Ser399Trp
NM_199436.1:c.1100C>G NP_955468.1:p.Ser367Trp
XM_005264516.3:c.1193C>G XP_005264573.1:p.Ser398Trp
XM_011533067.1:c.1196C>G XP_011531369.1:p.Ser399Trp
NM_001363823.1:c.1193C>G NP_001350752.1:p.Ser398Trp
NM_001363875.1:c.1097C>G NP_001350804.1:p.Ser366Trp
XM_005264516.5:c.1193C>G XP_005264573.1:p.Ser398Trp
XM_011533067.2:c.1196C>G XP_011531369.1:p.Ser399Trp
XM_017004778.2:c.1100C>G XP_016860267.1:p.Ser367Trp
NM_001363823.2:c.1193C>G NP_001350752.1:p.Ser398Trp
NM_001363875.2:c.1097C>G NP_001350804.1:p.Ser366Trp
NM_001377959.1:c.1100C>G NP_001364888.1:p.Ser367Trp
NM_014946.4:c.1196C>G MANE Select NP_055761.2:p.Ser399Trp
NM_199436.2:c.1100C>G NP_955468.1:p.Ser367Trp