Canonical Allele Identifier: CA346498377

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32114677A>G , CM000664.2:g.32114677A>G	GRCh38
NC_000002.11:g.32339746A>G , CM000664.1:g.32339746A>G	GRCh37
NC_000002.10:g.32193250A>G	NCBI36
NG_008730.1:g.56067A>G , LRG_714:g.56067A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.722A>G MANE Select	NP_055761.2:p.His241Arg
ENST00000315285.9:c.722A>G MANE Select	ENSP00000320885.3:p.His241Arg
NM_001363823.1:c.719A>G	NP_001350752.1:p.His240Arg
NM_001363823.2:c.719A>G	NP_001350752.1:p.His240Arg
NM_001363875.1:c.623A>G	NP_001350804.1:p.His208Arg
NM_001363875.2:c.623A>G	NP_001350804.1:p.His208Arg
NM_001377959.1:c.626A>G	NP_001364888.1:p.His209Arg
NM_014946.3:c.722A>G , LRG_714t1:c.722A>G	NP_055761.2:p.His241Arg
NM_199436.1:c.626A>G	NP_955468.1:p.His209Arg
NM_199436.2:c.626A>G	NP_955468.1:p.His209Arg
ENST00000315285.7:c.722A>G	ENSP00000320885.3:p.His241Arg
ENST00000345662.5:c.626A>G	ENSP00000340817.1:p.His209Arg
ENST00000615843.4:c.722A>G	ENSP00000480893.1:p.His241Arg
ENST00000621856.1:c.464A>G	ENSP00000482496.1:p.His155Arg
ENST00000621856.2:c.719A>G	ENSP00000482496.2:p.His240Arg
ENST00000642281.1:c.606A>G
ENST00000642455.1:c.623A>G	ENSP00000493827.1:p.His208Arg
ENST00000642751.1:c.496A>G
ENST00000642999.1:c.464A>G	ENSP00000496589.1:p.His155Arg
ENST00000643334.1:c.302A>G
ENST00000644408.1:c.598A>G
ENST00000644954.1:c.368A>G	ENSP00000494312.1:p.His123Arg
ENST00000645400.1:c.678A>G	ENSP00000496306.1:n.678A>G
ENST00000645671.1:c.172A>G
ENST00000645730.1:c.69A>G
ENST00000646082.1:c.517-1025A>G
ENST00000646571.1:c.626A>G	ENSP00000495015.1:p.His209Arg
ENST00000647007.1:n.414A>G
ENST00000647133.1:c.297A>G
ENST00000704289.1:c.*382A>G	ENSP00000515816.1:n.*382A>G
XM_005264516.3:c.719A>G	XP_005264573.1:p.His240Arg
XM_005264516.5:c.719A>G	XP_005264573.1:p.His240Arg
XM_011533067.1:c.722A>G	XP_011531369.1:p.His241Arg
XM_011533067.2:c.722A>G	XP_011531369.1:p.His241Arg
XM_017004778.2:c.626A>G	XP_016860267.1:p.His209Arg