Canonical Allele Identifier: CA346502893
Gene: SPAST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32141925T>G , CM000664.2:g.32141925T>G GRCh38
NC_000002.11:g.32366994T>G , CM000664.1:g.32366994T>G GRCh37
NC_000002.10:g.32220498T>G NCBI36
NG_008730.1:g.83315T>G , LRG_714:g.83315T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*1175T>G ENSP00000515816.1:n.*1175T>G
ENST00000315285.9:c.1515T>G MANE Select ENSP00000320885.3:p.Tyr505Ter
ENST00000621856.2:c.1512T>G ENSP00000482496.2:p.Tyr504Ter
ENST00000642281.1:c.1252T>G
ENST00000642455.1:c.1416T>G ENSP00000493827.1:p.Tyr472Ter
ENST00000642751.1:c.1289T>G
ENST00000642999.1:c.1257T>G ENSP00000496589.1:p.Tyr419Ter
ENST00000643327.1:c.582T>G
ENST00000643334.1:c.1095T>G
ENST00000644408.1:c.1391T>G
ENST00000644954.1:c.1161T>G ENSP00000494312.1:p.Tyr387Ter
ENST00000645159.1:n.2252T>G
ENST00000645671.1:c.965T>G
ENST00000645730.1:c.694T>G
ENST00000646082.1:c.1161T>G
ENST00000646571.1:c.1419T>G ENSP00000495015.1:p.Tyr473Ter
ENST00000647007.1:n.1207T>G
ENST00000647133.1:c.1015T>G
ENST00000315285.7:c.1515T>G ENSP00000320885.3:p.Tyr505Ter
ENST00000345662.5:c.1419T>G ENSP00000340817.1:p.Tyr473Ter
ENST00000615843.4:c.1515T>G ENSP00000480893.1:p.Tyr505Ter
ENST00000621856.1:c.1257T>G ENSP00000482496.1:p.Tyr419Ter
NM_014946.3:c.1515T>G , LRG_714t1:c.1515T>G NP_055761.2:p.Tyr505Ter
NM_199436.1:c.1419T>G NP_955468.1:p.Tyr473Ter
XM_005264516.3:c.1512T>G XP_005264573.1:p.Tyr504Ter
XM_011533067.1:c.1515T>G XP_011531369.1:p.Tyr505Ter
NM_001363823.1:c.1512T>G NP_001350752.1:p.Tyr504Ter
NM_001363875.1:c.1416T>G NP_001350804.1:p.Tyr472Ter
XM_005264516.5:c.1512T>G XP_005264573.1:p.Tyr504Ter
XM_011533067.2:c.1515T>G XP_011531369.1:p.Tyr505Ter
XM_017004778.2:c.1419T>G XP_016860267.1:p.Tyr473Ter
NM_001363823.2:c.1512T>G NP_001350752.1:p.Tyr504Ter
NM_001363875.2:c.1416T>G NP_001350804.1:p.Tyr472Ter
NM_001377959.1:c.1419T>G NP_001364888.1:p.Tyr473Ter
NM_014946.4:c.1515T>G MANE Select NP_055761.2:p.Tyr505Ter
NM_199436.2:c.1419T>G NP_955468.1:p.Tyr473Ter