Canonical Allele Identifier: CA346499656

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32116146A>G , CM000664.2:g.32116146A>G	GRCh38
NC_000002.11:g.32341215A>G , CM000664.1:g.32341215A>G	GRCh37
NC_000002.10:g.32194719A>G	NCBI36
NG_008730.1:g.57536A>G , LRG_714:g.57536A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1032A>G MANE Select	NP_055761.2:p.Ile344Met
ENST00000315285.9:c.1032A>G MANE Select	ENSP00000320885.3:p.Ile344Met
NM_001363823.1:c.1029A>G	NP_001350752.1:p.Ile343Met
NM_001363823.2:c.1029A>G	NP_001350752.1:p.Ile343Met
NM_001363875.1:c.933A>G	NP_001350804.1:p.Ile311Met
NM_001363875.2:c.933A>G	NP_001350804.1:p.Ile311Met
NM_001377959.1:c.936A>G	NP_001364888.1:p.Ile312Met
NM_014946.3:c.1032A>G , LRG_714t1:c.1032A>G	NP_055761.2:p.Ile344Met
NM_199436.1:c.936A>G	NP_955468.1:p.Ile312Met
NM_199436.2:c.936A>G	NP_955468.1:p.Ile312Met
ENST00000315285.7:c.1032A>G	ENSP00000320885.3:p.Ile344Met
ENST00000345662.5:c.936A>G	ENSP00000340817.1:p.Ile312Met
ENST00000615843.4:c.1032A>G	ENSP00000480893.1:p.Ile344Met
ENST00000621856.1:c.774A>G	ENSP00000482496.1:p.Ile258Met
ENST00000621856.2:c.1029A>G	ENSP00000482496.2:p.Ile343Met
ENST00000642281.1:c.916A>G
ENST00000642455.1:c.933A>G	ENSP00000493827.1:p.Ile311Met
ENST00000642751.1:c.806A>G
ENST00000642999.1:c.774A>G	ENSP00000496589.1:p.Ile258Met
ENST00000643327.1:c.191A>G
ENST00000643334.1:c.612A>G
ENST00000644408.1:c.908A>G
ENST00000644954.1:c.678A>G	ENSP00000494312.1:p.Ile226Met
ENST00000645671.1:c.482A>G
ENST00000645730.1:c.379A>G
ENST00000646082.1:c.678A>G
ENST00000646571.1:c.936A>G	ENSP00000495015.1:p.Ile312Met
ENST00000647007.1:n.724A>G
ENST00000647133.1:c.607A>G
ENST00000704289.1:c.*692A>G	ENSP00000515816.1:n.*692A>G
XM_005264516.3:c.1029A>G	XP_005264573.1:p.Ile343Met
XM_005264516.5:c.1029A>G	XP_005264573.1:p.Ile343Met
XM_011533067.1:c.1032A>G	XP_011531369.1:p.Ile344Met
XM_011533067.2:c.1032A>G	XP_011531369.1:p.Ile344Met
XM_017004778.2:c.936A>G	XP_016860267.1:p.Ile312Met