Canonical Allele Identifier: CA346602481
Gene: SPAST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32064230C>G , CM000664.2:g.32064230C>G GRCh38
NC_000002.11:g.32289299C>G , CM000664.1:g.32289299C>G GRCh37
NC_000002.10:g.32142803C>G NCBI36
NG_008730.1:g.5620C>G , LRG_714:g.5620C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.399C>G ENSP00000515816.1:p.Ile133Met
ENST00000315285.9:c.399C>G MANE Select ENSP00000320885.3:p.Ile133Met
ENST00000621856.2:c.399C>G ENSP00000482496.2:p.Ile133Met
ENST00000642281.1:c.283C>G
ENST00000642455.1:c.399C>G ENSP00000493827.1:p.Ile133Met
ENST00000642751.1:c.269C>G
ENST00000642999.1:c.141C>G ENSP00000496589.1:p.Ile47Met
ENST00000644408.1:c.275C>G
ENST00000644954.1:c.141C>G ENSP00000494312.1:p.Ile47Met
ENST00000645400.1:c.240C>G ENSP00000496306.1:p.Ile80Met
ENST00000645671.1:c.20C>G
ENST00000646082.1:c.233C>G
ENST00000646571.1:c.399C>G ENSP00000495015.1:p.Ile133Met
ENST00000315285.7:c.399C>G ENSP00000320885.3:p.Ile133Met
ENST00000345662.5:c.399C>G ENSP00000340817.1:p.Ile133Met
ENST00000615843.4:c.399C>G ENSP00000480893.1:p.Ile133Met
ENST00000621856.1:c.141C>G ENSP00000482496.1:p.Ile47Met
NM_014946.3:c.399C>G , LRG_714t1:c.399C>G NP_055761.2:p.Ile133Met
NM_199436.1:c.399C>G NP_955468.1:p.Ile133Met
XM_005264516.3:c.399C>G XP_005264573.1:p.Ile133Met
XM_011533067.1:c.399C>G XP_011531369.1:p.Ile133Met
NM_001363823.1:c.399C>G NP_001350752.1:p.Ile133Met
NM_001363875.1:c.399C>G NP_001350804.1:p.Ile133Met
XM_005264516.5:c.399C>G XP_005264573.1:p.Ile133Met
XM_011533067.2:c.399C>G XP_011531369.1:p.Ile133Met
XM_017004778.2:c.399C>G XP_016860267.1:p.Ile133Met
NM_001363823.2:c.399C>G NP_001350752.1:p.Ile133Met
NM_001363875.2:c.399C>G NP_001350804.1:p.Ile133Met
NM_001377959.1:c.399C>G NP_001364888.1:p.Ile133Met
NM_014946.4:c.399C>G MANE Select NP_055761.2:p.Ile133Met
NM_199436.2:c.399C>G NP_955468.1:p.Ile133Met