Canonical Allele Identifier: CA1600670
Community Standard Title: NM_014946.4(SPAST):c.662G>A (p.Arg221His)
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32098871G>A , CM000664.2:g.32098871G>A GRCh38
NC_000002.11:g.32323940G>A , CM000664.1:g.32323940G>A GRCh37
NC_000002.10:g.32177444G>A NCBI36
NG_008730.1:g.40261G>A , LRG_714:g.40261G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014946.4:c.662G>A MANE Select NP_055761.2:p.Arg221His
ENST00000315285.9:c.662G>A MANE Select ENSP00000320885.3:p.Arg221His
NM_001363823.1:c.659G>A NP_001350752.1:p.Arg220His
NM_001363823.2:c.659G>A NP_001350752.1:p.Arg220His
NM_001363875.1:c.583+9266G>A NP_001350804.1:n.583+9266G>A
NM_001363875.2:c.583+9266G>A NP_001350804.1:n.583+9266G>A
NM_001377959.1:c.586+9266G>A NP_001364888.1:n.586+9266G>A
NM_014946.3:c.662G>A , LRG_714t1:c.662G>A NP_055761.2:p.Arg221His
NM_199436.1:c.586+9266G>A NP_955468.1:n.586+9266G>A
NM_199436.2:c.586+9266G>A NP_955468.1:n.586+9266G>A
ENST00000315285.7:c.662G>A ENSP00000320885.3:p.Arg221His
ENST00000345662.5:c.586+9266G>A ENSP00000340817.1:n.586+9266G>A
ENST00000615843.4:c.662G>A ENSP00000480893.1:p.Arg221His
ENST00000621856.1:c.404G>A ENSP00000482496.1:p.Arg135His
ENST00000621856.2:c.659G>A ENSP00000482496.2:p.Arg220His
ENST00000642281.1:c.546G>A
ENST00000642455.1:c.583+9266G>A ENSP00000493827.1:n.583+9266G>A
ENST00000642751.1:c.456+9266G>A
ENST00000642999.1:c.404G>A ENSP00000496589.1:p.Arg135His
ENST00000643334.1:c.242G>A
ENST00000644408.1:c.538G>A
ENST00000644954.1:c.328+9266G>A ENSP00000494312.1:n.328+9266G>A
ENST00000645400.1:c.618G>A ENSP00000496306.1:n.618G>A
ENST00000645671.1:c.112G>A
ENST00000645730.1:c.9G>A
ENST00000646082.1:c.496G>A
ENST00000646571.1:c.586+9266G>A ENSP00000495015.1:n.586+9266G>A
ENST00000647007.1:n.354G>A
ENST00000647133.1:c.237G>A
ENST00000704289.1:c.*322G>A ENSP00000515816.1:n.*322G>A
XM_005264516.3:c.659G>A XP_005264573.1:p.Arg220His
XM_005264516.5:c.659G>A XP_005264573.1:p.Arg220His
XM_011533067.1:c.662G>A XP_011531369.1:p.Arg221His
XM_011533067.2:c.662G>A XP_011531369.1:p.Arg221His
XM_017004778.2:c.586+9266G>A XP_016860267.1:n.586+9266G>A