Canonical Allele Identifier: CA346499257

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32115786A>T , CM000664.2:g.32115786A>T	GRCh38
NC_000002.11:g.32340855A>T , CM000664.1:g.32340855A>T	GRCh37
NC_000002.10:g.32194359A>T	NCBI36
NG_008730.1:g.57176A>T , LRG_714:g.57176A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.955A>T MANE Select	NP_055761.2:p.Asn319Tyr
ENST00000315285.9:c.955A>T MANE Select	ENSP00000320885.3:p.Asn319Tyr
NM_001363823.1:c.952A>T	NP_001350752.1:p.Asn318Tyr
NM_001363823.2:c.952A>T	NP_001350752.1:p.Asn318Tyr
NM_001363875.1:c.856A>T	NP_001350804.1:p.Asn286Tyr
NM_001363875.2:c.856A>T	NP_001350804.1:p.Asn286Tyr
NM_001377959.1:c.859A>T	NP_001364888.1:p.Asn287Tyr
NM_014946.3:c.955A>T , LRG_714t1:c.955A>T	NP_055761.2:p.Asn319Tyr
NM_199436.1:c.859A>T	NP_955468.1:p.Asn287Tyr
NM_199436.2:c.859A>T	NP_955468.1:p.Asn287Tyr
ENST00000315285.7:c.955A>T	ENSP00000320885.3:p.Asn319Tyr
ENST00000345662.5:c.859A>T	ENSP00000340817.1:p.Asn287Tyr
ENST00000615843.4:c.955A>T	ENSP00000480893.1:p.Asn319Tyr
ENST00000621856.1:c.697A>T	ENSP00000482496.1:p.Asn233Tyr
ENST00000621856.2:c.952A>T	ENSP00000482496.2:p.Asn318Tyr
ENST00000642281.1:c.839A>T
ENST00000642455.1:c.856A>T	ENSP00000493827.1:p.Asn286Tyr
ENST00000642751.1:c.729A>T
ENST00000642999.1:c.697A>T	ENSP00000496589.1:p.Asn233Tyr
ENST00000643327.1:c.114A>T
ENST00000643334.1:c.535A>T
ENST00000644408.1:c.831A>T
ENST00000644954.1:c.601A>T	ENSP00000494312.1:p.Asn201Tyr
ENST00000645671.1:c.405A>T
ENST00000645730.1:c.302A>T
ENST00000646082.1:c.601A>T
ENST00000646571.1:c.859A>T	ENSP00000495015.1:p.Asn287Tyr
ENST00000647007.1:n.647A>T
ENST00000647133.1:c.530A>T
ENST00000704289.1:c.*615A>T	ENSP00000515816.1:n.*615A>T
XM_005264516.3:c.952A>T	XP_005264573.1:p.Asn318Tyr
XM_005264516.5:c.952A>T	XP_005264573.1:p.Asn318Tyr
XM_011533067.1:c.955A>T	XP_011531369.1:p.Asn319Tyr
XM_011533067.2:c.955A>T	XP_011531369.1:p.Asn319Tyr
XM_017004778.2:c.859A>T	XP_016860267.1:p.Asn287Tyr