Canonical Allele Identifier: CA44750011

Gene: SPAST

Linked Data

• dbSNP Id: rs1553318289
• MyVariant Identifiers: chr2:g.32362081_32362082insATAT (hg19) ; chr2:g.32137012_32137013insATAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137012_32137013insATAT , CM000664.2:g.32137012_32137013insATAT	GRCh38
NC_000002.11:g.32362081_32362082insATAT , CM000664.1:g.32362081_32362082insATAT	GRCh37
NC_000002.10:g.32215585_32215586insATAT	NCBI36
NG_008730.1:g.78402_78403insATAT , LRG_714:g.78402_78403insATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1073+44_*1073+45insATAT	ENSP00000515816.1:n.*1073+44_*1073+45insATAT
ENST00000315285.9:c.1413+44_1413+45insATAT MANE Select	ENSP00000320885.3:n.1413+44_1413+45insATAT
ENST00000621856.2:c.1410+44_1410+45insATAT	ENSP00000482496.2:n.1410+44_1410+45insATAT
ENST00000642281.1:c.1150+44_1150+45insATAT
ENST00000642455.1:c.1314+44_1314+45insATAT	ENSP00000493827.1:n.1314+44_1314+45insATAT
ENST00000642751.1:c.1187+44_1187+45insATAT
ENST00000642999.1:c.1155+44_1155+45insATAT	ENSP00000496589.1:n.1155+44_1155+45insATAT
ENST00000643327.1:c.481-97_481-96insATAT
ENST00000643334.1:c.993+44_993+45insATAT
ENST00000644408.1:c.1289+44_1289+45insATAT
ENST00000644954.1:c.1059+44_1059+45insATAT	ENSP00000494312.1:n.1059+44_1059+45insATAT
ENST00000645159.1:n.2150+44_2150+45insATAT
ENST00000645671.1:c.863+44_863+45insATAT
ENST00000645730.1:c.593-97_593-96insATAT
ENST00000646082.1:c.1059+44_1059+45insATAT
ENST00000646571.1:c.1317+44_1317+45insATAT	ENSP00000495015.1:n.1317+44_1317+45insATAT
ENST00000647007.1:n.1105+44_1105+45insATAT
ENST00000647133.1:c.913+44_913+45insATAT
ENST00000315285.7:c.1413+44_1413+45insATAT	ENSP00000320885.3:n.1413+44_1413+45insATAT
ENST00000345662.5:c.1317+44_1317+45insATAT	ENSP00000340817.1:n.1317+44_1317+45insATAT
ENST00000615843.4:c.1413+44_1413+45insATAT	ENSP00000480893.1:n.1413+44_1413+45insATAT
ENST00000621856.1:c.1155+44_1155+45insATAT	ENSP00000482496.1:n.1155+44_1155+45insATAT
NM_014946.3:c.1413+44_1413+45insATAT , LRG_714t1:c.1413+44_1413+45insATAT	NP_055761.2:n.1413+44_1413+45insATAT
NM_199436.1:c.1317+44_1317+45insATAT	NP_955468.1:n.1317+44_1317+45insATAT
XM_005264516.3:c.1410+44_1410+45insATAT	XP_005264573.1:n.1410+44_1410+45insATAT
XM_011533067.1:c.1413+44_1413+45insATAT	XP_011531369.1:n.1413+44_1413+45insATAT
NM_001363823.1:c.1410+44_1410+45insATAT	NP_001350752.1:n.1410+44_1410+45insATAT
NM_001363875.1:c.1314+44_1314+45insATAT	NP_001350804.1:n.1314+44_1314+45insATAT
XM_005264516.5:c.1410+44_1410+45insATAT	XP_005264573.1:n.1410+44_1410+45insATAT
XM_011533067.2:c.1413+44_1413+45insATAT	XP_011531369.1:n.1413+44_1413+45insATAT
XM_017004778.2:c.1317+44_1317+45insATAT	XP_016860267.1:n.1317+44_1317+45insATAT
NM_001363823.2:c.1410+44_1410+45insATAT	NP_001350752.1:n.1410+44_1410+45insATAT
NM_001363875.2:c.1314+44_1314+45insATAT	NP_001350804.1:n.1314+44_1314+45insATAT
NM_001377959.1:c.1317+44_1317+45insATAT	NP_001364888.1:n.1317+44_1317+45insATAT
NM_014946.4:c.1413+44_1413+45insATAT MANE Select	NP_055761.2:n.1413+44_1413+45insATAT
NM_199436.2:c.1317+44_1317+45insATAT	NP_955468.1:n.1317+44_1317+45insATAT