Canonical Allele Identifier: CA346502528
Gene: SPAST HGNC NCBI

Linked Data

gnomAD v4: 2-32137177-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32137177G>C , CM000664.2:g.32137177G>C GRCh38
NC_000002.11:g.32362246G>C , CM000664.1:g.32362246G>C GRCh37
NC_000002.10:g.32215750G>C NCBI36
NG_008730.1:g.78567G>C , LRG_714:g.78567G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*1142G>C ENSP00000515816.1:n.*1142G>C
ENST00000315285.9:c.1482G>C MANE Select ENSP00000320885.3:p.Glu494Asp
ENST00000621856.2:c.1479G>C ENSP00000482496.2:p.Glu493Asp
ENST00000642281.1:c.1219G>C
ENST00000642455.1:c.1383G>C ENSP00000493827.1:p.Glu461Asp
ENST00000642751.1:c.1256G>C
ENST00000642999.1:c.1224G>C ENSP00000496589.1:p.Glu408Asp
ENST00000643327.1:c.549G>C
ENST00000643334.1:c.1062G>C
ENST00000644408.1:c.1358G>C
ENST00000644954.1:c.1128G>C ENSP00000494312.1:p.Glu376Asp
ENST00000645159.1:n.2219G>C
ENST00000645671.1:c.932G>C
ENST00000645730.1:c.661G>C
ENST00000646082.1:c.1128G>C
ENST00000646571.1:c.1386G>C ENSP00000495015.1:p.Glu462Asp
ENST00000647007.1:n.1174G>C
ENST00000647133.1:c.982G>C
ENST00000315285.7:c.1482G>C ENSP00000320885.3:p.Glu494Asp
ENST00000345662.5:c.1386G>C ENSP00000340817.1:p.Glu462Asp
ENST00000615843.4:c.1482G>C ENSP00000480893.1:p.Glu494Asp
ENST00000621856.1:c.1224G>C ENSP00000482496.1:p.Glu408Asp
NM_014946.3:c.1482G>C , LRG_714t1:c.1482G>C NP_055761.2:p.Glu494Asp
NM_199436.1:c.1386G>C NP_955468.1:p.Glu462Asp
XM_005264516.3:c.1479G>C XP_005264573.1:p.Glu493Asp
XM_011533067.1:c.1482G>C XP_011531369.1:p.Glu494Asp
NM_001363823.1:c.1479G>C NP_001350752.1:p.Glu493Asp
NM_001363875.1:c.1383G>C NP_001350804.1:p.Glu461Asp
XM_005264516.5:c.1479G>C XP_005264573.1:p.Glu493Asp
XM_011533067.2:c.1482G>C XP_011531369.1:p.Glu494Asp
XM_017004778.2:c.1386G>C XP_016860267.1:p.Glu462Asp
NM_001363823.2:c.1479G>C NP_001350752.1:p.Glu493Asp
NM_001363875.2:c.1383G>C NP_001350804.1:p.Glu461Asp
NM_001377959.1:c.1386G>C NP_001364888.1:p.Glu462Asp
NM_014946.4:c.1482G>C MANE Select NP_055761.2:p.Glu494Asp
NM_199436.2:c.1386G>C NP_955468.1:p.Glu462Asp