Canonical Allele Identifier: CA2740261291

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136659T>G , CM000664.2:g.32136659T>G	GRCh38
NC_000002.11:g.32361728T>G , CM000664.1:g.32361728T>G	GRCh37
NC_000002.10:g.32215232T>G	NCBI36
NG_008730.1:g.78049T>G , LRG_714:g.78049T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*981+21T>G	ENSP00000515816.1:n.*981+21T>G
ENST00000315285.9:c.1321+21T>G MANE Select	ENSP00000320885.3:n.1321+21T>G
ENST00000621856.2:c.1318+21T>G	ENSP00000482496.2:n.1318+21T>G
ENST00000642281.1:c.1058+21T>G
ENST00000642455.1:c.1222+21T>G	ENSP00000493827.1:n.1222+21T>G
ENST00000642751.1:c.1095+21T>G
ENST00000642999.1:c.1063+21T>G	ENSP00000496589.1:n.1063+21T>G
ENST00000643327.1:c.480+21T>G
ENST00000643334.1:c.901+21T>G
ENST00000644408.1:c.1197+21T>G
ENST00000644954.1:c.967+21T>G	ENSP00000494312.1:n.967+21T>G
ENST00000645159.1:n.2058+21T>G
ENST00000645671.1:c.771+21T>G
ENST00000645730.1:c.593-450T>G
ENST00000646082.1:c.967+21T>G
ENST00000646571.1:c.1225+21T>G	ENSP00000495015.1:n.1225+21T>G
ENST00000647007.1:n.1013+21T>G
ENST00000647133.1:c.821+21T>G
ENST00000315285.7:c.1321+21T>G	ENSP00000320885.3:n.1321+21T>G
ENST00000345662.5:c.1225+21T>G	ENSP00000340817.1:n.1225+21T>G
ENST00000615843.4:c.1321+21T>G	ENSP00000480893.1:n.1321+21T>G
ENST00000621856.1:c.1063+21T>G	ENSP00000482496.1:n.1063+21T>G
NM_014946.3:c.1321+21T>G , LRG_714t1:c.1321+21T>G	NP_055761.2:n.1321+21T>G
NM_199436.1:c.1225+21T>G	NP_955468.1:n.1225+21T>G
XM_005264516.3:c.1318+21T>G	XP_005264573.1:n.1318+21T>G
XM_011533067.1:c.1321+21T>G	XP_011531369.1:n.1321+21T>G
NM_001363823.1:c.1318+21T>G	NP_001350752.1:n.1318+21T>G
NM_001363875.1:c.1222+21T>G	NP_001350804.1:n.1222+21T>G
XM_005264516.5:c.1318+21T>G	XP_005264573.1:n.1318+21T>G
XM_011533067.2:c.1321+21T>G	XP_011531369.1:n.1321+21T>G
XM_017004778.2:c.1225+21T>G	XP_016860267.1:n.1225+21T>G
NM_001363823.2:c.1318+21T>G	NP_001350752.1:n.1318+21T>G
NM_001363875.2:c.1222+21T>G	NP_001350804.1:n.1222+21T>G
NM_001377959.1:c.1225+21T>G	NP_001364888.1:n.1225+21T>G
NM_014946.4:c.1321+21T>G MANE Select	NP_055761.2:n.1321+21T>G
NM_199436.2:c.1225+21T>G	NP_955468.1:n.1225+21T>G