Canonical Allele Identifier: CA346498586

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32114737C>G , CM000664.2:g.32114737C>G	GRCh38
NC_000002.11:g.32339806C>G , CM000664.1:g.32339806C>G	GRCh37
NC_000002.10:g.32193310C>G	NCBI36
NG_008730.1:g.56127C>G , LRG_714:g.56127C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.782C>G MANE Select	NP_055761.2:p.Ser261Ter
ENST00000315285.9:c.782C>G MANE Select	ENSP00000320885.3:p.Ser261Ter
NM_001363823.1:c.779C>G	NP_001350752.1:p.Ser260Ter
NM_001363823.2:c.779C>G	NP_001350752.1:p.Ser260Ter
NM_001363875.1:c.683C>G	NP_001350804.1:p.Ser228Ter
NM_001363875.2:c.683C>G	NP_001350804.1:p.Ser228Ter
NM_001377959.1:c.686C>G	NP_001364888.1:p.Ser229Ter
NM_014946.3:c.782C>G , LRG_714t1:c.782C>G	NP_055761.2:p.Ser261Ter
NM_199436.1:c.686C>G	NP_955468.1:p.Ser229Ter
NM_199436.2:c.686C>G	NP_955468.1:p.Ser229Ter
ENST00000315285.7:c.782C>G	ENSP00000320885.3:p.Ser261Ter
ENST00000345662.5:c.686C>G	ENSP00000340817.1:p.Ser229Ter
ENST00000615843.4:c.782C>G	ENSP00000480893.1:p.Ser261Ter
ENST00000621856.1:c.524C>G	ENSP00000482496.1:p.Ser175Ter
ENST00000621856.2:c.779C>G	ENSP00000482496.2:p.Ser260Ter
ENST00000642281.1:c.666C>G
ENST00000642455.1:c.683C>G	ENSP00000493827.1:p.Ser228Ter
ENST00000642751.1:c.556C>G
ENST00000642999.1:c.524C>G	ENSP00000496589.1:p.Ser175Ter
ENST00000643334.1:c.362C>G
ENST00000644408.1:c.658C>G
ENST00000644954.1:c.428C>G	ENSP00000494312.1:p.Ser143Ter
ENST00000645400.1:c.738C>G	ENSP00000496306.1:n.738C>G
ENST00000645671.1:c.232C>G
ENST00000645730.1:c.129C>G
ENST00000646082.1:c.517-965C>G
ENST00000646571.1:c.686C>G	ENSP00000495015.1:p.Ser229Ter
ENST00000647007.1:n.474C>G
ENST00000647133.1:c.357C>G
ENST00000704289.1:c.*442C>G	ENSP00000515816.1:n.*442C>G
XM_005264516.3:c.779C>G	XP_005264573.1:p.Ser260Ter
XM_005264516.5:c.779C>G	XP_005264573.1:p.Ser260Ter
XM_011533067.1:c.782C>G	XP_011531369.1:p.Ser261Ter
XM_011533067.2:c.782C>G	XP_011531369.1:p.Ser261Ter
XM_017004778.2:c.686C>G	XP_016860267.1:p.Ser229Ter