Canonical Allele Identifier: CA645372364
Community Standard Title: NM_014946.4(SPAST):c.1494-5T>G
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32141899T>G , CM000664.2:g.32141899T>G GRCh38
NC_000002.11:g.32366968T>G , CM000664.1:g.32366968T>G GRCh37
NC_000002.10:g.32220472T>G NCBI36
NG_008730.1:g.83289T>G , LRG_714:g.83289T>G

Transcript Alleles

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