Canonical Allele Identifier: CA1242491414

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32114828A>G , CM000664.2:g.32114828A>G	GRCh38
NC_000002.11:g.32339897A>G , CM000664.1:g.32339897A>G	GRCh37
NC_000002.10:g.32193401A>G	NCBI36
NG_008730.1:g.56218A>G , LRG_714:g.56218A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.870+3A>G MANE Select	NP_055761.2:n.870+3A>G
ENST00000315285.9:c.870+3A>G MANE Select	ENSP00000320885.3:n.870+3A>G
NM_001363823.1:c.867+3A>G	NP_001350752.1:n.867+3A>G
NM_001363823.2:c.867+3A>G	NP_001350752.1:n.867+3A>G
NM_001363875.1:c.771+3A>G	NP_001350804.1:n.771+3A>G
NM_001363875.2:c.771+3A>G	NP_001350804.1:n.771+3A>G
NM_001377959.1:c.774+3A>G	NP_001364888.1:n.774+3A>G
NM_014946.3:c.870+3A>G , LRG_714t1:c.870+3A>G	NP_055761.2:n.870+3A>G
NM_199436.1:c.774+3A>G	NP_955468.1:n.774+3A>G
NM_199436.2:c.774+3A>G	NP_955468.1:n.774+3A>G
ENST00000315285.7:c.870+3A>G	ENSP00000320885.3:n.870+3A>G
ENST00000345662.5:c.774+3A>G	ENSP00000340817.1:n.774+3A>G
ENST00000615843.4:c.870+3A>G	ENSP00000480893.1:n.870+3A>G
ENST00000621856.1:c.612+3A>G	ENSP00000482496.1:n.612+3A>G
ENST00000621856.2:c.867+3A>G	ENSP00000482496.2:n.867+3A>G
ENST00000642281.1:c.754+3A>G
ENST00000642455.1:c.771+3A>G	ENSP00000493827.1:n.771+3A>G
ENST00000642751.1:c.644+3A>G
ENST00000642999.1:c.612+3A>G	ENSP00000496589.1:n.612+3A>G
ENST00000643327.1:c.29+3A>G
ENST00000643334.1:c.450+3A>G
ENST00000644408.1:c.746+3A>G
ENST00000644954.1:c.516+3A>G	ENSP00000494312.1:n.516+3A>G
ENST00000645671.1:c.320+3A>G
ENST00000645730.1:c.217+3A>G
ENST00000646082.1:c.517-874A>G
ENST00000646571.1:c.774+3A>G	ENSP00000495015.1:n.774+3A>G
ENST00000647007.1:n.562+3A>G
ENST00000647133.1:c.445+3A>G
ENST00000704289.1:c.*530+3A>G	ENSP00000515816.1:n.*530+3A>G
XM_005264516.3:c.867+3A>G	XP_005264573.1:n.867+3A>G
XM_005264516.5:c.867+3A>G	XP_005264573.1:n.867+3A>G
XM_011533067.1:c.870+3A>G	XP_011531369.1:n.870+3A>G
XM_011533067.2:c.870+3A>G	XP_011531369.1:n.870+3A>G
XM_017004778.2:c.774+3A>G	XP_016860267.1:n.774+3A>G