Canonical Allele Identifier: CA2586964750

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136625dup , CM000664.2:g.32136625dup	GRCh38
NC_000002.11:g.32361694dup , CM000664.1:g.32361694dup	GRCh37
NC_000002.10:g.32215198dup	NCBI36
NG_008730.1:g.78015dup , LRG_714:g.78015dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*968dup	ENSP00000515816.1:n.*968dup
ENST00000315285.9:c.1308dup MANE Select	ENSP00000320885.3:p.Ile437TyrfsTer6
ENST00000621856.2:c.1305dup	ENSP00000482496.2:p.Ile436TyrfsTer6
ENST00000642281.1:c.1045dup
ENST00000642455.1:c.1209dup	ENSP00000493827.1:p.Ile404TyrfsTer6
ENST00000642751.1:c.1082dup
ENST00000642999.1:c.1050dup	ENSP00000496589.1:p.Ile351TyrfsTer6
ENST00000643327.1:c.467dup
ENST00000643334.1:c.888dup
ENST00000644408.1:c.1184dup
ENST00000644954.1:c.954dup	ENSP00000494312.1:p.Ile319TyrfsTer6
ENST00000645159.1:n.2045dup
ENST00000645671.1:c.758dup
ENST00000645730.1:c.593-484dup
ENST00000646082.1:c.954dup
ENST00000646571.1:c.1212dup	ENSP00000495015.1:p.Ile405TyrfsTer6
ENST00000647007.1:n.1000dup
ENST00000647133.1:c.808dup
ENST00000315285.7:c.1308dup	ENSP00000320885.3:p.Ile437TyrfsTer6
ENST00000345662.5:c.1212dup	ENSP00000340817.1:p.Ile405TyrfsTer6
ENST00000615843.4:c.1308dup	ENSP00000480893.1:p.Ile437TyrfsTer6
ENST00000621856.1:c.1050dup	ENSP00000482496.1:p.Ile351TyrfsTer6
NM_014946.3:c.1308dup , LRG_714t1:c.1308dup	NP_055761.2:p.Ile437TyrfsTer6
NM_199436.1:c.1212dup	NP_955468.1:p.Ile405TyrfsTer6
XM_005264516.3:c.1305dup	XP_005264573.1:p.Ile436TyrfsTer6
XM_011533067.1:c.1308dup	XP_011531369.1:p.Ile437TyrfsTer6
NM_001363823.1:c.1305dup	NP_001350752.1:p.Ile436TyrfsTer6
NM_001363875.1:c.1209dup	NP_001350804.1:p.Ile404TyrfsTer6
XM_005264516.5:c.1305dup	XP_005264573.1:p.Ile436TyrfsTer6
XM_011533067.2:c.1308dup	XP_011531369.1:p.Ile437TyrfsTer6
XM_017004778.2:c.1212dup	XP_016860267.1:p.Ile405TyrfsTer6
NM_001363823.2:c.1305dup	NP_001350752.1:p.Ile436TyrfsTer6
NM_001363875.2:c.1209dup	NP_001350804.1:p.Ile404TyrfsTer6
NM_001377959.1:c.1212dup	NP_001364888.1:p.Ile405TyrfsTer6
NM_014946.4:c.1308dup MANE Select	NP_055761.2:p.Ile437TyrfsTer6
NM_199436.2:c.1212dup	NP_955468.1:p.Ile405TyrfsTer6