Canonical Allele Identifier: CA2658527501
Gene: SPAST HGNC NCBI

Linked Data

gnomAD v4: 2-32128494-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32128494T>C , CM000664.2:g.32128494T>C GRCh38
NC_000002.11:g.32353563T>C , CM000664.1:g.32353563T>C GRCh37
NC_000002.10:g.32207067T>C NCBI36
NG_008730.1:g.69884T>C , LRG_714:g.69884T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*905+15T>C ENSP00000515816.1:n.*905+15T>C
ENST00000315285.9:c.1245+15T>C MANE Select ENSP00000320885.3:n.1245+15T>C
ENST00000621856.2:c.1242+15T>C ENSP00000482496.2:n.1242+15T>C
ENST00000642281.1:c.983-8069T>C
ENST00000642455.1:c.1146+15T>C ENSP00000493827.1:n.1146+15T>C
ENST00000642751.1:c.1019+15T>C
ENST00000642999.1:c.987+15T>C ENSP00000496589.1:n.987+15T>C
ENST00000643327.1:c.404+15T>C
ENST00000643334.1:c.825+15T>C
ENST00000644408.1:c.1121+15T>C
ENST00000644954.1:c.891+15T>C ENSP00000494312.1:n.891+15T>C
ENST00000645159.1:n.1982+15T>C
ENST00000645550.1:n.473T>C
ENST00000645671.1:c.695+15T>C
ENST00000645730.1:c.592+15T>C
ENST00000646082.1:c.891+15T>C
ENST00000646571.1:c.1149+15T>C ENSP00000495015.1:n.1149+15T>C
ENST00000647007.1:n.937+15T>C
ENST00000647133.1:c.745+15T>C
ENST00000315285.7:c.1245+15T>C ENSP00000320885.3:n.1245+15T>C
ENST00000345662.5:c.1149+15T>C ENSP00000340817.1:n.1149+15T>C
ENST00000615843.4:c.1245+15T>C ENSP00000480893.1:n.1245+15T>C
ENST00000621856.1:c.987+15T>C ENSP00000482496.1:n.987+15T>C
NM_014946.3:c.1245+15T>C , LRG_714t1:c.1245+15T>C NP_055761.2:n.1245+15T>C
NM_199436.1:c.1149+15T>C NP_955468.1:n.1149+15T>C
XM_005264516.3:c.1242+15T>C XP_005264573.1:n.1242+15T>C
XM_011533067.1:c.1245+15T>C XP_011531369.1:n.1245+15T>C
NM_001363823.1:c.1242+15T>C NP_001350752.1:n.1242+15T>C
NM_001363875.1:c.1146+15T>C NP_001350804.1:n.1146+15T>C
XM_005264516.5:c.1242+15T>C XP_005264573.1:n.1242+15T>C
XM_011533067.2:c.1245+15T>C XP_011531369.1:n.1245+15T>C
XM_017004778.2:c.1149+15T>C XP_016860267.1:n.1149+15T>C
NM_001363823.2:c.1242+15T>C NP_001350752.1:n.1242+15T>C
NM_001363875.2:c.1146+15T>C NP_001350804.1:n.1146+15T>C
NM_001377959.1:c.1149+15T>C NP_001364888.1:n.1149+15T>C
NM_014946.4:c.1245+15T>C MANE Select NP_055761.2:n.1245+15T>C
NM_199436.2:c.1149+15T>C NP_955468.1:n.1149+15T>C