Canonical Allele Identifier: CA346501235
Gene: SPAST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32126969C>G , CM000664.2:g.32126969C>G GRCh38
NC_000002.11:g.32352038C>G , CM000664.1:g.32352038C>G GRCh37
NC_000002.10:g.32205542C>G NCBI36
NG_008730.1:g.68359C>G , LRG_714:g.68359C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*780C>G ENSP00000515816.1:n.*780C>G
ENST00000315285.9:c.1120C>G MANE Select ENSP00000320885.3:p.Pro374Ala
ENST00000621856.2:c.1117C>G ENSP00000482496.2:p.Pro373Ala
ENST00000642281.1:c.983-9594C>G
ENST00000642455.1:c.1021C>G ENSP00000493827.1:p.Pro341Ala
ENST00000642751.1:c.894C>G
ENST00000642999.1:c.862C>G ENSP00000496589.1:p.Pro288Ala
ENST00000643327.1:c.279C>G
ENST00000643334.1:c.700C>G
ENST00000644408.1:c.996C>G
ENST00000644954.1:c.766C>G ENSP00000494312.1:p.Pro256Ala
ENST00000645159.1:n.472C>G
ENST00000645550.1:n.333C>G
ENST00000645671.1:c.570C>G
ENST00000645730.1:c.467C>G
ENST00000646082.1:c.766C>G
ENST00000646571.1:c.1024C>G ENSP00000495015.1:p.Pro342Ala
ENST00000647007.1:n.812C>G
ENST00000647133.1:c.674-1439C>G
ENST00000315285.7:c.1120C>G ENSP00000320885.3:p.Pro374Ala
ENST00000345662.5:c.1024C>G ENSP00000340817.1:p.Pro342Ala
ENST00000615843.4:c.1120C>G ENSP00000480893.1:p.Pro374Ala
ENST00000621856.1:c.862C>G ENSP00000482496.1:p.Pro288Ala
NM_014946.3:c.1120C>G , LRG_714t1:c.1120C>G NP_055761.2:p.Pro374Ala
NM_199436.1:c.1024C>G NP_955468.1:p.Pro342Ala
XM_005264516.3:c.1117C>G XP_005264573.1:p.Pro373Ala
XM_011533067.1:c.1120C>G XP_011531369.1:p.Pro374Ala
NM_001363823.1:c.1117C>G NP_001350752.1:p.Pro373Ala
NM_001363875.1:c.1021C>G NP_001350804.1:p.Pro341Ala
XM_005264516.5:c.1117C>G XP_005264573.1:p.Pro373Ala
XM_011533067.2:c.1120C>G XP_011531369.1:p.Pro374Ala
XM_017004778.2:c.1024C>G XP_016860267.1:p.Pro342Ala
NM_001363823.2:c.1117C>G NP_001350752.1:p.Pro373Ala
NM_001363875.2:c.1021C>G NP_001350804.1:p.Pro341Ala
NM_001377959.1:c.1024C>G NP_001364888.1:p.Pro342Ala
NM_014946.4:c.1120C>G MANE Select NP_055761.2:p.Pro374Ala
NM_199436.2:c.1024C>G NP_955468.1:p.Pro342Ala