Canonical Allele Identifier: CA2658522691
Gene: SPAST HGNC NCBI

Linked Data

gnomAD v4: 2-32141855-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32141855C>T , CM000664.2:g.32141855C>T GRCh38
NC_000002.11:g.32366924C>T , CM000664.1:g.32366924C>T GRCh37
NC_000002.10:g.32220428C>T NCBI36
NG_008730.1:g.83245C>T , LRG_714:g.83245C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.*1154-49C>T ENSP00000515816.1:n.*1154-49C>T
ENST00000315285.9:c.1494-49C>T MANE Select ENSP00000320885.3:n.1494-49C>T
ENST00000621856.2:c.1491-49C>T ENSP00000482496.2:n.1491-49C>T
ENST00000642281.1:c.1231-49C>T
ENST00000642455.1:c.1395-49C>T ENSP00000493827.1:n.1395-49C>T
ENST00000642751.1:c.1268-49C>T
ENST00000642999.1:c.1236-49C>T ENSP00000496589.1:n.1236-49C>T
ENST00000643327.1:c.561-49C>T
ENST00000643334.1:c.1074-49C>T
ENST00000644408.1:c.1370-49C>T
ENST00000644954.1:c.1140-49C>T ENSP00000494312.1:n.1140-49C>T
ENST00000645159.1:n.2231-49C>T
ENST00000645671.1:c.944-49C>T
ENST00000645730.1:c.673-49C>T
ENST00000646082.1:c.1140-49C>T
ENST00000646571.1:c.1398-49C>T ENSP00000495015.1:n.1398-49C>T
ENST00000647007.1:n.1186-49C>T
ENST00000647133.1:c.994-49C>T
ENST00000315285.7:c.1494-49C>T ENSP00000320885.3:n.1494-49C>T
ENST00000345662.5:c.1398-49C>T ENSP00000340817.1:n.1398-49C>T
ENST00000615843.4:c.1494-49C>T ENSP00000480893.1:n.1494-49C>T
ENST00000621856.1:c.1236-49C>T ENSP00000482496.1:n.1236-49C>T
NM_014946.3:c.1494-49C>T , LRG_714t1:c.1494-49C>T NP_055761.2:n.1494-49C>T
NM_199436.1:c.1398-49C>T NP_955468.1:n.1398-49C>T
XM_005264516.3:c.1491-49C>T XP_005264573.1:n.1491-49C>T
XM_011533067.1:c.1494-49C>T XP_011531369.1:n.1494-49C>T
NM_001363823.1:c.1491-49C>T NP_001350752.1:n.1491-49C>T
NM_001363875.1:c.1395-49C>T NP_001350804.1:n.1395-49C>T
XM_005264516.5:c.1491-49C>T XP_005264573.1:n.1491-49C>T
XM_011533067.2:c.1494-49C>T XP_011531369.1:n.1494-49C>T
XM_017004778.2:c.1398-49C>T XP_016860267.1:n.1398-49C>T
NM_001363823.2:c.1491-49C>T NP_001350752.1:n.1491-49C>T
NM_001363875.2:c.1395-49C>T NP_001350804.1:n.1395-49C>T
NM_001377959.1:c.1398-49C>T NP_001364888.1:n.1398-49C>T
NM_014946.4:c.1494-49C>T MANE Select NP_055761.2:n.1494-49C>T
NM_199436.2:c.1398-49C>T NP_955468.1:n.1398-49C>T