Canonical Allele Identifier: CA346502918
Gene: SPAST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32141930C>A , CM000664.2:g.32141930C>A GRCh38
NC_000002.11:g.32366999C>A , CM000664.1:g.32366999C>A GRCh37
NC_000002.10:g.32220503C>A NCBI36
NG_008730.1:g.83320C>A , LRG_714:g.83320C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*1180C>A ENSP00000515816.1:n.*1180C>A
ENST00000315285.9:c.1520C>A MANE Select ENSP00000320885.3:p.Ser507Tyr
ENST00000621856.2:c.1517C>A ENSP00000482496.2:p.Ser506Tyr
ENST00000642281.1:c.1257C>A
ENST00000642455.1:c.1421C>A ENSP00000493827.1:p.Ser474Tyr
ENST00000642751.1:c.1294C>A
ENST00000642999.1:c.1262C>A ENSP00000496589.1:p.Ser421Tyr
ENST00000643327.1:c.587C>A
ENST00000643334.1:c.1100C>A
ENST00000644408.1:c.1396C>A
ENST00000644954.1:c.1166C>A ENSP00000494312.1:p.Ser389Tyr
ENST00000645159.1:n.2257C>A
ENST00000645671.1:c.970C>A
ENST00000645730.1:c.699C>A
ENST00000646082.1:c.1166C>A
ENST00000646571.1:c.1424C>A ENSP00000495015.1:p.Ser475Tyr
ENST00000647007.1:n.1212C>A
ENST00000647133.1:c.1020C>A
ENST00000315285.7:c.1520C>A ENSP00000320885.3:p.Ser507Tyr
ENST00000345662.5:c.1424C>A ENSP00000340817.1:p.Ser475Tyr
ENST00000615843.4:c.1520C>A ENSP00000480893.1:p.Ser507Tyr
ENST00000621856.1:c.1262C>A ENSP00000482496.1:p.Ser421Tyr
NM_014946.3:c.1520C>A , LRG_714t1:c.1520C>A NP_055761.2:p.Ser507Tyr
NM_199436.1:c.1424C>A NP_955468.1:p.Ser475Tyr
XM_005264516.3:c.1517C>A XP_005264573.1:p.Ser506Tyr
XM_011533067.1:c.1520C>A XP_011531369.1:p.Ser507Tyr
NM_001363823.1:c.1517C>A NP_001350752.1:p.Ser506Tyr
NM_001363875.1:c.1421C>A NP_001350804.1:p.Ser474Tyr
XM_005264516.5:c.1517C>A XP_005264573.1:p.Ser506Tyr
XM_011533067.2:c.1520C>A XP_011531369.1:p.Ser507Tyr
XM_017004778.2:c.1424C>A XP_016860267.1:p.Ser475Tyr
NM_001363823.2:c.1517C>A NP_001350752.1:p.Ser506Tyr
NM_001363875.2:c.1421C>A NP_001350804.1:p.Ser474Tyr
NM_001377959.1:c.1424C>A NP_001364888.1:p.Ser475Tyr
NM_014946.4:c.1520C>A MANE Select NP_055761.2:p.Ser507Tyr
NM_199436.2:c.1424C>A NP_955468.1:p.Ser475Tyr