Canonical Allele Identifier: CA346498423
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 448453
dbSNP Id: rs1553314896
gnomAD v4: 2-32114689-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32114689C>G , CM000664.2:g.32114689C>G GRCh38
NC_000002.11:g.32339758C>G , CM000664.1:g.32339758C>G GRCh37
NC_000002.10:g.32193262C>G NCBI36
NG_008730.1:g.56079C>G , LRG_714:g.56079C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*394C>G ENSP00000515816.1:n.*394C>G
ENST00000315285.9:c.734C>G MANE Select ENSP00000320885.3:p.Ser245Ter
ENST00000621856.2:c.731C>G ENSP00000482496.2:p.Ser244Ter
ENST00000642281.1:c.618C>G
ENST00000642455.1:c.635C>G ENSP00000493827.1:p.Ser212Ter
ENST00000642751.1:c.508C>G
ENST00000642999.1:c.476C>G ENSP00000496589.1:p.Ser159Ter
ENST00000643334.1:c.314C>G
ENST00000644408.1:c.610C>G
ENST00000644954.1:c.380C>G ENSP00000494312.1:p.Ser127Ter
ENST00000645400.1:c.690C>G ENSP00000496306.1:n.690C>G
ENST00000645671.1:c.184C>G
ENST00000645730.1:c.81C>G
ENST00000646082.1:c.517-1013C>G
ENST00000646571.1:c.638C>G ENSP00000495015.1:p.Ser213Ter
ENST00000647007.1:n.426C>G
ENST00000647133.1:c.309C>G
ENST00000315285.7:c.734C>G ENSP00000320885.3:p.Ser245Ter
ENST00000345662.5:c.638C>G ENSP00000340817.1:p.Ser213Ter
ENST00000615843.4:c.734C>G ENSP00000480893.1:p.Ser245Ter
ENST00000621856.1:c.476C>G ENSP00000482496.1:p.Ser159Ter
NM_014946.3:c.734C>G , LRG_714t1:c.734C>G NP_055761.2:p.Ser245Ter
NM_199436.1:c.638C>G NP_955468.1:p.Ser213Ter
XM_005264516.3:c.731C>G XP_005264573.1:p.Ser244Ter
XM_011533067.1:c.734C>G XP_011531369.1:p.Ser245Ter
NM_001363823.1:c.731C>G NP_001350752.1:p.Ser244Ter
NM_001363875.1:c.635C>G NP_001350804.1:p.Ser212Ter
XM_005264516.5:c.731C>G XP_005264573.1:p.Ser244Ter
XM_011533067.2:c.734C>G XP_011531369.1:p.Ser245Ter
XM_017004778.2:c.638C>G XP_016860267.1:p.Ser213Ter
NM_001363823.2:c.731C>G NP_001350752.1:p.Ser244Ter
NM_001363875.2:c.635C>G NP_001350804.1:p.Ser212Ter
NM_001377959.1:c.638C>G NP_001364888.1:p.Ser213Ter
NM_014946.4:c.734C>G MANE Select NP_055761.2:p.Ser245Ter
NM_199436.2:c.638C>G NP_955468.1:p.Ser213Ter