Canonical Allele Identifier: CA346501204
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 871090
ClinVar RCV Id: RCV001090861
dbSNP Id: rs370845582

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32126953C>G , CM000664.2:g.32126953C>G GRCh38
NC_000002.11:g.32352022C>G , CM000664.1:g.32352022C>G GRCh37
NC_000002.10:g.32205526C>G NCBI36
NG_008730.1:g.68343C>G , LRG_714:g.68343C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*764C>G ENSP00000515816.1:n.*764C>G
ENST00000315285.9:c.1104C>G MANE Select ENSP00000320885.3:p.Phe368Leu
ENST00000621856.2:c.1101C>G ENSP00000482496.2:p.Phe367Leu
ENST00000642281.1:c.983-9610C>G
ENST00000642455.1:c.1005C>G ENSP00000493827.1:p.Phe335Leu
ENST00000642751.1:c.878C>G
ENST00000642999.1:c.846C>G ENSP00000496589.1:p.Phe282Leu
ENST00000643327.1:c.263C>G
ENST00000643334.1:c.684C>G
ENST00000644408.1:c.980C>G
ENST00000644954.1:c.750C>G ENSP00000494312.1:p.Phe250Leu
ENST00000645159.1:n.456C>G
ENST00000645550.1:n.317C>G
ENST00000645671.1:c.554C>G
ENST00000645730.1:c.451C>G
ENST00000646082.1:c.750C>G
ENST00000646571.1:c.1008C>G ENSP00000495015.1:p.Phe336Leu
ENST00000647007.1:n.796C>G
ENST00000647133.1:c.674-1455C>G
ENST00000315285.7:c.1104C>G ENSP00000320885.3:p.Phe368Leu
ENST00000345662.5:c.1008C>G ENSP00000340817.1:p.Phe336Leu
ENST00000615843.4:c.1104C>G ENSP00000480893.1:p.Phe368Leu
ENST00000621856.1:c.846C>G ENSP00000482496.1:p.Phe282Leu
NM_014946.3:c.1104C>G , LRG_714t1:c.1104C>G NP_055761.2:p.Phe368Leu
NM_199436.1:c.1008C>G NP_955468.1:p.Phe336Leu
XM_005264516.3:c.1101C>G XP_005264573.1:p.Phe367Leu
XM_011533067.1:c.1104C>G XP_011531369.1:p.Phe368Leu
NM_001363823.1:c.1101C>G NP_001350752.1:p.Phe367Leu
NM_001363875.1:c.1005C>G NP_001350804.1:p.Phe335Leu
XM_005264516.5:c.1101C>G XP_005264573.1:p.Phe367Leu
XM_011533067.2:c.1104C>G XP_011531369.1:p.Phe368Leu
XM_017004778.2:c.1008C>G XP_016860267.1:p.Phe336Leu
NM_001363823.2:c.1101C>G NP_001350752.1:p.Phe367Leu
NM_001363875.2:c.1005C>G NP_001350804.1:p.Phe335Leu
NM_001377959.1:c.1008C>G NP_001364888.1:p.Phe336Leu
NM_014946.4:c.1104C>G MANE Select NP_055761.2:p.Phe368Leu
NM_199436.2:c.1008C>G NP_955468.1:p.Phe336Leu