Canonical Allele Identifier: CA1462199070

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137185_32137186dup , CM000664.2:g.32137185_32137186dup	GRCh38
NC_000002.11:g.32362254_32362255dup , CM000664.1:g.32362254_32362255dup	GRCh37
NC_000002.10:g.32215758_32215759dup	NCBI36
NG_008730.1:g.78575_78576dup , LRG_714:g.78575_78576dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1150_*1151dup	ENSP00000515816.1:n.*1150_*1151dup
ENST00000315285.9:c.1490_1491dup MANE Select	ENSP00000320885.3:p.Arg498SerfsTer?
ENST00000621856.2:c.1487_1488dup	ENSP00000482496.2:p.Arg497SerfsTer?
ENST00000642281.1:c.1227_1228dup
ENST00000642455.1:c.1391_1392dup	ENSP00000493827.1:p.Arg465SerfsTer?
ENST00000642751.1:c.1264_1265dup
ENST00000642999.1:c.1232_1233dup	ENSP00000496589.1:p.Arg412SerfsTer?
ENST00000643327.1:c.557_558dup
ENST00000643334.1:c.1070_1071dup
ENST00000644408.1:c.1366_1367dup
ENST00000644954.1:c.1136_1137dup	ENSP00000494312.1:p.Arg380SerfsTer?
ENST00000645159.1:n.2227_2228dup
ENST00000645671.1:c.940_941dup
ENST00000645730.1:c.669_670dup
ENST00000646082.1:c.1136_1137dup
ENST00000646571.1:c.1394_1395dup	ENSP00000495015.1:p.Arg466SerfsTer?
ENST00000647007.1:n.1182_1183dup
ENST00000647133.1:c.990_991dup
ENST00000315285.7:c.1490_1491dup	ENSP00000320885.3:p.Arg498SerfsTer?
ENST00000345662.5:c.1394_1395dup	ENSP00000340817.1:p.Arg466SerfsTer?
ENST00000615843.4:c.1490_1491dup	ENSP00000480893.1:p.Arg498SerfsTer?
ENST00000621856.1:c.1232_1233dup	ENSP00000482496.1:p.Arg412SerfsTer?
NM_014946.3:c.1490_1491dup , LRG_714t1:c.1490_1491dup	NP_055761.2:p.Arg498SerfsTer?
NM_199436.1:c.1394_1395dup	NP_955468.1:p.Arg466SerfsTer?
XM_005264516.3:c.1487_1488dup	XP_005264573.1:p.Arg497SerfsTer?
XM_011533067.1:c.1490_1491dup	XP_011531369.1:p.Arg498SerfsTer?
NM_001363823.1:c.1487_1488dup	NP_001350752.1:p.Arg497SerfsTer?
NM_001363875.1:c.1391_1392dup	NP_001350804.1:p.Arg465SerfsTer?
XM_005264516.5:c.1487_1488dup	XP_005264573.1:p.Arg497SerfsTer?
XM_011533067.2:c.1490_1491dup	XP_011531369.1:p.Arg498SerfsTer?
XM_017004778.2:c.1394_1395dup	XP_016860267.1:p.Arg466SerfsTer?
NM_001363823.2:c.1487_1488dup	NP_001350752.1:p.Arg497SerfsTer?
NM_001363875.2:c.1391_1392dup	NP_001350804.1:p.Arg465SerfsTer?
NM_001377959.1:c.1394_1395dup	NP_001364888.1:p.Arg466SerfsTer?
NM_014946.4:c.1490_1491dup MANE Select	NP_055761.2:p.Arg498SerfsTer?
NM_199436.2:c.1394_1395dup	NP_955468.1:p.Arg466SerfsTer?