Canonical Allele Identifier: CA2586968969

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32141922_32141924dup , CM000664.2:g.32141922_32141924dup	GRCh38
NC_000002.11:g.32366991_32366993dup , CM000664.1:g.32366991_32366993dup	GRCh37
NC_000002.10:g.32220495_32220497dup	NCBI36
NG_008730.1:g.83312_83314dup , LRG_714:g.83312_83314dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1172_*1174dup	ENSP00000515816.1:n.*1172_*1174dup
ENST00000315285.9:c.1512_1514dup MANE Select	ENSP00000320885.3:p.Tyr505Ter
ENST00000621856.2:c.1509_1511dup	ENSP00000482496.2:p.Tyr504Ter
ENST00000642281.1:c.1249_1251dup
ENST00000642455.1:c.1413_1415dup	ENSP00000493827.1:p.Tyr472Ter
ENST00000642751.1:c.1286_1288dup
ENST00000642999.1:c.1254_1256dup	ENSP00000496589.1:p.Tyr419Ter
ENST00000643327.1:c.579_581dup
ENST00000643334.1:c.1092_1094dup
ENST00000644408.1:c.1388_1390dup
ENST00000644954.1:c.1158_1160dup	ENSP00000494312.1:p.Tyr387Ter
ENST00000645159.1:n.2249_2251dup
ENST00000645671.1:c.962_964dup
ENST00000645730.1:c.691_693dup
ENST00000646082.1:c.1158_1160dup
ENST00000646571.1:c.1416_1418dup	ENSP00000495015.1:p.Tyr473Ter
ENST00000647007.1:n.1204_1206dup
ENST00000647133.1:c.1012_1014dup
ENST00000315285.7:c.1512_1514dup	ENSP00000320885.3:p.Tyr505Ter
ENST00000345662.5:c.1416_1418dup	ENSP00000340817.1:p.Tyr473Ter
ENST00000615843.4:c.1512_1514dup	ENSP00000480893.1:p.Tyr505Ter
ENST00000621856.1:c.1254_1256dup	ENSP00000482496.1:p.Tyr419Ter
NM_014946.3:c.1512_1514dup , LRG_714t1:c.1512_1514dup	NP_055761.2:p.Tyr505Ter
NM_199436.1:c.1416_1418dup	NP_955468.1:p.Tyr473Ter
XM_005264516.3:c.1509_1511dup	XP_005264573.1:p.Tyr504Ter
XM_011533067.1:c.1512_1514dup	XP_011531369.1:p.Tyr505Ter
NM_001363823.1:c.1509_1511dup	NP_001350752.1:p.Tyr504Ter
NM_001363875.1:c.1413_1415dup	NP_001350804.1:p.Tyr472Ter
XM_005264516.5:c.1509_1511dup	XP_005264573.1:p.Tyr504Ter
XM_011533067.2:c.1512_1514dup	XP_011531369.1:p.Tyr505Ter
XM_017004778.2:c.1416_1418dup	XP_016860267.1:p.Tyr473Ter
NM_001363823.2:c.1509_1511dup	NP_001350752.1:p.Tyr504Ter
NM_001363875.2:c.1413_1415dup	NP_001350804.1:p.Tyr472Ter
NM_001377959.1:c.1416_1418dup	NP_001364888.1:p.Tyr473Ter
NM_014946.4:c.1512_1514dup MANE Select	NP_055761.2:p.Tyr505Ter
NM_199436.2:c.1416_1418dup	NP_955468.1:p.Tyr473Ter