Canonical Allele Identifier: CA346502219

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32361973G>T (hg19) ; chr2:g.32136904G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136904G>T , CM000664.2:g.32136904G>T	GRCh38
NC_000002.11:g.32361973G>T , CM000664.1:g.32361973G>T	GRCh37
NC_000002.10:g.32215477G>T	NCBI36
NG_008730.1:g.78294G>T , LRG_714:g.78294G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1009G>T	ENSP00000515816.1:n.*1009G>T
ENST00000315285.9:c.1349G>T MANE Select	ENSP00000320885.3:p.Arg450Ile
ENST00000621856.2:c.1346G>T	ENSP00000482496.2:p.Arg449Ile
ENST00000642281.1:c.1086G>T
ENST00000642455.1:c.1250G>T	ENSP00000493827.1:p.Arg417Ile
ENST00000642751.1:c.1123G>T
ENST00000642999.1:c.1091G>T	ENSP00000496589.1:p.Arg364Ile
ENST00000643327.1:c.481-205G>T
ENST00000643334.1:c.929G>T
ENST00000644408.1:c.1225G>T
ENST00000644954.1:c.995G>T	ENSP00000494312.1:p.Arg332Ile
ENST00000645159.1:n.2086G>T
ENST00000645671.1:c.799G>T
ENST00000645730.1:c.593-205G>T
ENST00000646082.1:c.995G>T
ENST00000646571.1:c.1253G>T	ENSP00000495015.1:p.Arg418Ile
ENST00000647007.1:n.1041G>T
ENST00000647133.1:c.849G>T
ENST00000315285.7:c.1349G>T	ENSP00000320885.3:p.Arg450Ile
ENST00000345662.5:c.1253G>T	ENSP00000340817.1:p.Arg418Ile
ENST00000615843.4:c.1349G>T	ENSP00000480893.1:p.Arg450Ile
ENST00000621856.1:c.1091G>T	ENSP00000482496.1:p.Arg364Ile
NM_014946.3:c.1349G>T , LRG_714t1:c.1349G>T	NP_055761.2:p.Arg450Ile
NM_199436.1:c.1253G>T	NP_955468.1:p.Arg418Ile
XM_005264516.3:c.1346G>T	XP_005264573.1:p.Arg449Ile
XM_011533067.1:c.1349G>T	XP_011531369.1:p.Arg450Ile
NM_001363823.1:c.1346G>T	NP_001350752.1:p.Arg449Ile
NM_001363875.1:c.1250G>T	NP_001350804.1:p.Arg417Ile
XM_005264516.5:c.1346G>T	XP_005264573.1:p.Arg449Ile
XM_011533067.2:c.1349G>T	XP_011531369.1:p.Arg450Ile
XM_017004778.2:c.1253G>T	XP_016860267.1:p.Arg418Ile
NM_001363823.2:c.1346G>T	NP_001350752.1:p.Arg449Ile
NM_001363875.2:c.1250G>T	NP_001350804.1:p.Arg417Ile
NM_001377959.1:c.1253G>T	NP_001364888.1:p.Arg418Ile
NM_014946.4:c.1349G>T MANE Select	NP_055761.2:p.Arg450Ile
NM_199436.2:c.1253G>T	NP_955468.1:p.Arg418Ile