Canonical Allele Identifier: CA1242501779
Community Standard Title: NM_014946.4(SPAST):c.1409A= (p.Asp470=)
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32136964A= , CM000664.2:g.32136964A= GRCh38
NC_000002.11:g.32362033A= , CM000664.1:g.32362033A= GRCh37
NC_000002.10:g.32215537A= NCBI36
NG_008730.1:g.78354A= , LRG_714:g.78354A=

Transcript Alleles

HGVS Amino-acid Change
NM_014946.4:c.1409A= MANE Select NP_055761.2:p.Asp470=
ENST00000315285.9:c.1409A= MANE Select ENSP00000320885.3:p.Asp470=
NM_001363823.1:c.1406A= NP_001350752.1:p.Asp469=
NM_001363823.2:c.1406A= NP_001350752.1:p.Asp469=
NM_001363875.1:c.1310A= NP_001350804.1:p.Asp437=
NM_001363875.2:c.1310A= NP_001350804.1:p.Asp437=
NM_001377959.1:c.1313A= NP_001364888.1:p.Asp438=
NM_014946.3:c.1409A= , LRG_714t1:c.1409A= NP_055761.2:p.Asp470=
NM_199436.1:c.1313A= NP_955468.1:p.Asp438=
NM_199436.2:c.1313A= NP_955468.1:p.Asp438=
ENST00000315285.7:c.1409A= ENSP00000320885.3:p.Asp470=
ENST00000345662.5:c.1313A= ENSP00000340817.1:p.Asp438=
ENST00000615843.4:c.1409A= ENSP00000480893.1:p.Asp470=
ENST00000621856.1:c.1151A= ENSP00000482496.1:p.Asp384=
ENST00000621856.2:c.1406A= ENSP00000482496.2:p.Asp469=
ENST00000642281.1:c.1146A=
ENST00000642455.1:c.1310A= ENSP00000493827.1:p.Asp437=
ENST00000642751.1:c.1183A=
ENST00000642999.1:c.1151A= ENSP00000496589.1:p.Asp384=
ENST00000643327.1:c.481-145A=
ENST00000643334.1:c.989A=
ENST00000644408.1:c.1285A=
ENST00000644954.1:c.1055A= ENSP00000494312.1:p.Asp352=
ENST00000645159.1:n.2146A=
ENST00000645671.1:c.859A=
ENST00000645730.1:c.593-145A=
ENST00000646082.1:c.1055A=
ENST00000646571.1:c.1313A= ENSP00000495015.1:p.Asp438=
ENST00000647007.1:n.1101A=
ENST00000647133.1:c.909A=
ENST00000704289.1:c.*1069A= ENSP00000515816.1:n.*1069A=
XM_005264516.3:c.1406A= XP_005264573.1:p.Asp469=
XM_005264516.5:c.1406A= XP_005264573.1:p.Asp469=
XM_011533067.1:c.1409A= XP_011531369.1:p.Asp470=
XM_011533067.2:c.1409A= XP_011531369.1:p.Asp470=
XM_017004778.2:c.1313A= XP_016860267.1:p.Asp438=