Canonical Allele Identifier: CA346504194
Community Standard Title: NM_014946.4(SPAST):c.1637G>T (p.Gly546Val)
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32144957G>T , CM000664.2:g.32144957G>T GRCh38
NC_000002.11:g.32370026G>T , CM000664.1:g.32370026G>T GRCh37
NC_000002.10:g.32223530G>T NCBI36
NG_008730.1:g.86347G>T , LRG_714:g.86347G>T

Transcript Alleles

HGVS Amino-acid Change
NM_014946.4:c.1637G>T MANE Select NP_055761.2:p.Gly546Val
ENST00000315285.9:c.1637G>T MANE Select ENSP00000320885.3:p.Gly546Val
NM_001363823.1:c.1634G>T NP_001350752.1:p.Gly545Val
NM_001363823.2:c.1634G>T NP_001350752.1:p.Gly545Val
NM_001363875.1:c.1538G>T NP_001350804.1:p.Gly513Val
NM_001363875.2:c.1538G>T NP_001350804.1:p.Gly513Val
NM_001377959.1:c.1520+1542G>T NP_001364888.1:n.1520+1542G>T
NM_014946.3:c.1637G>T , LRG_714t1:c.1637G>T NP_055761.2:p.Gly546Val
NM_199436.1:c.1541G>T NP_955468.1:p.Gly514Val
NM_199436.2:c.1541G>T NP_955468.1:p.Gly514Val
ENST00000315285.7:c.1637G>T ENSP00000320885.3:p.Gly546Val
ENST00000345662.5:c.1541G>T ENSP00000340817.1:p.Gly514Val
ENST00000615843.4:c.1637G>T ENSP00000480893.1:p.Gly546Val
ENST00000621856.1:c.1379G>T ENSP00000482496.1:p.Gly460Val
ENST00000621856.2:c.1634G>T ENSP00000482496.2:p.Gly545Val
ENST00000642281.1:c.1374G>T
ENST00000642455.1:c.1538G>T ENSP00000493827.1:p.Gly513Val
ENST00000642751.1:c.1390+1542G>T
ENST00000642999.1:c.1379G>T ENSP00000496589.1:p.Gly460Val
ENST00000643334.1:c.1217G>T
ENST00000644408.1:c.1513G>T
ENST00000644954.1:c.1283G>T ENSP00000494312.1:p.Gly428Val
ENST00000645159.1:n.2374G>T
ENST00000645671.1:c.1066+1542G>T
ENST00000645730.1:c.816G>T
ENST00000646082.1:c.1283G>T
ENST00000646571.1:c.1541G>T ENSP00000495015.1:p.Gly514Val
ENST00000647007.1:n.1329G>T
ENST00000647133.1:c.1137G>T
ENST00000704289.1:c.*1297G>T ENSP00000515816.1:n.*1297G>T
XM_005264516.3:c.1634G>T XP_005264573.1:p.Gly545Val
XM_005264516.5:c.1634G>T XP_005264573.1:p.Gly545Val
XM_011533067.1:c.1616+1542G>T XP_011531369.1:n.1616+1542G>T
XM_011533067.2:c.1616+1542G>T XP_011531369.1:n.1616+1542G>T
XM_017004778.2:c.1520+1542G>T XP_016860267.1:n.1520+1542G>T