Canonical Allele Identifier: CA346504254
Community Standard Title: NM_014946.4(SPAST):c.1664A>G (p.Asp555Gly)
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32144984A>G , CM000664.2:g.32144984A>G GRCh38
NC_000002.11:g.32370053A>G , CM000664.1:g.32370053A>G GRCh37
NC_000002.10:g.32223557A>G NCBI36
NG_008730.1:g.86374A>G , LRG_714:g.86374A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014946.4:c.1664A>G MANE Select NP_055761.2:p.Asp555Gly
ENST00000315285.9:c.1664A>G MANE Select ENSP00000320885.3:p.Asp555Gly
NM_001363823.1:c.1661A>G NP_001350752.1:p.Asp554Gly
NM_001363823.2:c.1661A>G NP_001350752.1:p.Asp554Gly
NM_001363875.1:c.1565A>G NP_001350804.1:p.Asp522Gly
NM_001363875.2:c.1565A>G NP_001350804.1:p.Asp522Gly
NM_001377959.1:c.1520+1569A>G NP_001364888.1:n.1520+1569A>G
NM_014946.3:c.1664A>G , LRG_714t1:c.1664A>G NP_055761.2:p.Asp555Gly
NM_199436.1:c.1568A>G NP_955468.1:p.Asp523Gly
NM_199436.2:c.1568A>G NP_955468.1:p.Asp523Gly
ENST00000315285.7:c.1664A>G ENSP00000320885.3:p.Asp555Gly
ENST00000345662.5:c.1568A>G ENSP00000340817.1:p.Asp523Gly
ENST00000615843.4:c.1664A>G ENSP00000480893.1:p.Asp555Gly
ENST00000621856.1:c.1406A>G ENSP00000482496.1:p.Asp469Gly
ENST00000621856.2:c.1661A>G ENSP00000482496.2:p.Asp554Gly
ENST00000642281.1:c.1401A>G
ENST00000642455.1:c.1565A>G ENSP00000493827.1:p.Asp522Gly
ENST00000642751.1:c.1390+1569A>G
ENST00000642999.1:c.1406A>G ENSP00000496589.1:p.Asp469Gly
ENST00000643334.1:c.1244A>G
ENST00000644408.1:c.1540A>G
ENST00000644954.1:c.1310A>G ENSP00000494312.1:p.Asp437Gly
ENST00000645159.1:n.2401A>G
ENST00000645671.1:c.1066+1569A>G
ENST00000645730.1:c.843A>G
ENST00000646082.1:c.1310A>G
ENST00000646571.1:c.1568A>G ENSP00000495015.1:p.Asp523Gly
ENST00000647007.1:n.1356A>G
ENST00000647133.1:c.1164A>G
ENST00000704289.1:c.*1324A>G ENSP00000515816.1:n.*1324A>G
XM_005264516.3:c.1661A>G XP_005264573.1:p.Asp554Gly
XM_005264516.5:c.1661A>G XP_005264573.1:p.Asp554Gly
XM_011533067.1:c.1616+1569A>G XP_011531369.1:n.1616+1569A>G
XM_011533067.2:c.1616+1569A>G XP_011531369.1:n.1616+1569A>G
XM_017004778.2:c.1520+1569A>G XP_016860267.1:n.1520+1569A>G