Canonical Allele Identifier: CA346499655

Gene: SPAST

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32116145T>G , CM000664.2:g.32116145T>G	GRCh38
NC_000002.11:g.32341214T>G , CM000664.1:g.32341214T>G	GRCh37
NC_000002.10:g.32194718T>G	NCBI36
NG_008730.1:g.57535T>G , LRG_714:g.57535T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*691T>G	ENSP00000515816.1:n.*691T>G
ENST00000315285.9:c.1031T>G MANE Select	ENSP00000320885.3:p.Ile344Arg
ENST00000621856.2:c.1028T>G	ENSP00000482496.2:p.Ile343Arg
ENST00000642281.1:c.915T>G
ENST00000642455.1:c.932T>G	ENSP00000493827.1:p.Ile311Arg
ENST00000642751.1:c.805T>G
ENST00000642999.1:c.773T>G	ENSP00000496589.1:p.Ile258Arg
ENST00000643327.1:c.190T>G
ENST00000643334.1:c.611T>G
ENST00000644408.1:c.907T>G
ENST00000644954.1:c.677T>G	ENSP00000494312.1:p.Ile226Arg
ENST00000645671.1:c.481T>G
ENST00000645730.1:c.378T>G
ENST00000646082.1:c.677T>G
ENST00000646571.1:c.935T>G	ENSP00000495015.1:p.Ile312Arg
ENST00000647007.1:n.723T>G
ENST00000647133.1:c.606T>G
ENST00000315285.7:c.1031T>G	ENSP00000320885.3:p.Ile344Arg
ENST00000345662.5:c.935T>G	ENSP00000340817.1:p.Ile312Arg
ENST00000615843.4:c.1031T>G	ENSP00000480893.1:p.Ile344Arg
ENST00000621856.1:c.773T>G	ENSP00000482496.1:p.Ile258Arg
NM_014946.3:c.1031T>G , LRG_714t1:c.1031T>G	NP_055761.2:p.Ile344Arg
NM_199436.1:c.935T>G	NP_955468.1:p.Ile312Arg
XM_005264516.3:c.1028T>G	XP_005264573.1:p.Ile343Arg
XM_011533067.1:c.1031T>G	XP_011531369.1:p.Ile344Arg
NM_001363823.1:c.1028T>G	NP_001350752.1:p.Ile343Arg
NM_001363875.1:c.932T>G	NP_001350804.1:p.Ile311Arg
XM_005264516.5:c.1028T>G	XP_005264573.1:p.Ile343Arg
XM_011533067.2:c.1031T>G	XP_011531369.1:p.Ile344Arg
XM_017004778.2:c.935T>G	XP_016860267.1:p.Ile312Arg
NM_001363823.2:c.1028T>G	NP_001350752.1:p.Ile343Arg
NM_001363875.2:c.932T>G	NP_001350804.1:p.Ile311Arg
NM_001377959.1:c.935T>G	NP_001364888.1:p.Ile312Arg
NM_014946.4:c.1031T>G MANE Select	NP_055761.2:p.Ile344Arg
NM_199436.2:c.935T>G	NP_955468.1:p.Ile312Arg