Canonical Allele Identifier: CA346501363
Gene: SPAST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32128409C>G , CM000664.2:g.32128409C>G GRCh38
NC_000002.11:g.32353478C>G , CM000664.1:g.32353478C>G GRCh37
NC_000002.10:g.32206982C>G NCBI36
NG_008730.1:g.69799C>G , LRG_714:g.69799C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*835C>G ENSP00000515816.1:n.*835C>G
ENST00000315285.9:c.1175C>G MANE Select ENSP00000320885.3:p.Ala392Gly
ENST00000621856.2:c.1172C>G ENSP00000482496.2:p.Ala391Gly
ENST00000642281.1:c.983-8154C>G
ENST00000642455.1:c.1076C>G ENSP00000493827.1:p.Ala359Gly
ENST00000642751.1:c.949C>G
ENST00000642999.1:c.917C>G ENSP00000496589.1:p.Ala306Gly
ENST00000643327.1:c.334C>G
ENST00000643334.1:c.755C>G
ENST00000644408.1:c.1051C>G
ENST00000644954.1:c.821C>G ENSP00000494312.1:p.Ala274Gly
ENST00000645159.1:n.1912C>G
ENST00000645550.1:n.388C>G
ENST00000645671.1:c.625C>G
ENST00000645730.1:c.522C>G
ENST00000646082.1:c.821C>G
ENST00000646571.1:c.1079C>G ENSP00000495015.1:p.Ala360Gly
ENST00000647007.1:n.867C>G
ENST00000647133.1:c.675C>G
ENST00000315285.7:c.1175C>G ENSP00000320885.3:p.Ala392Gly
ENST00000345662.5:c.1079C>G ENSP00000340817.1:p.Ala360Gly
ENST00000615843.4:c.1175C>G ENSP00000480893.1:p.Ala392Gly
ENST00000621856.1:c.917C>G ENSP00000482496.1:p.Ala306Gly
NM_014946.3:c.1175C>G , LRG_714t1:c.1175C>G NP_055761.2:p.Ala392Gly
NM_199436.1:c.1079C>G NP_955468.1:p.Ala360Gly
XM_005264516.3:c.1172C>G XP_005264573.1:p.Ala391Gly
XM_011533067.1:c.1175C>G XP_011531369.1:p.Ala392Gly
NM_001363823.1:c.1172C>G NP_001350752.1:p.Ala391Gly
NM_001363875.1:c.1076C>G NP_001350804.1:p.Ala359Gly
XM_005264516.5:c.1172C>G XP_005264573.1:p.Ala391Gly
XM_011533067.2:c.1175C>G XP_011531369.1:p.Ala392Gly
XM_017004778.2:c.1079C>G XP_016860267.1:p.Ala360Gly
NM_001363823.2:c.1172C>G NP_001350752.1:p.Ala391Gly
NM_001363875.2:c.1076C>G NP_001350804.1:p.Ala359Gly
NM_001377959.1:c.1079C>G NP_001364888.1:p.Ala360Gly
NM_014946.4:c.1175C>G MANE Select NP_055761.2:p.Ala392Gly
NM_199436.2:c.1079C>G NP_955468.1:p.Ala360Gly