Canonical Allele Identifier: CA346603601

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32314669T>G (hg19) ; chr2:g.32089600T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32089600T>G , CM000664.2:g.32089600T>G	GRCh38
NC_000002.11:g.32314669T>G , CM000664.1:g.32314669T>G	GRCh37
NC_000002.10:g.32168173T>G	NCBI36
NG_008730.1:g.30990T>G , LRG_714:g.30990T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*241T>G	ENSP00000515816.1:n.*241T>G
ENST00000315285.9:c.581T>G MANE Select	ENSP00000320885.3:p.Leu194Arg
ENST00000621856.2:c.578T>G	ENSP00000482496.2:p.Leu193Arg
ENST00000642281.1:c.465T>G
ENST00000642455.1:c.578T>G	ENSP00000493827.1:p.Leu193Arg
ENST00000642751.1:c.451T>G
ENST00000642999.1:c.323T>G	ENSP00000496589.1:p.Leu108Arg
ENST00000643334.1:c.166T>G
ENST00000644408.1:c.457T>G
ENST00000644954.1:c.323T>G	ENSP00000494312.1:p.Leu108Arg
ENST00000645400.1:c.537T>G	ENSP00000496306.1:n.537T>G
ENST00000645671.1:c.37-9196T>G
ENST00000646082.1:c.415T>G
ENST00000646571.1:c.581T>G	ENSP00000495015.1:p.Leu194Arg
ENST00000647007.1:n.278T>G
ENST00000647133.1:c.156T>G
ENST00000315285.7:c.581T>G	ENSP00000320885.3:p.Leu194Arg
ENST00000345662.5:c.581T>G	ENSP00000340817.1:p.Leu194Arg
ENST00000615843.4:c.581T>G	ENSP00000480893.1:p.Leu194Arg
ENST00000621856.1:c.323T>G	ENSP00000482496.1:p.Leu108Arg
NM_014946.3:c.581T>G , LRG_714t1:c.581T>G	NP_055761.2:p.Leu194Arg
NM_199436.1:c.581T>G	NP_955468.1:p.Leu194Arg
XM_005264516.3:c.578T>G	XP_005264573.1:p.Leu193Arg
XM_011533067.1:c.581T>G	XP_011531369.1:p.Leu194Arg
NM_001363823.1:c.578T>G	NP_001350752.1:p.Leu193Arg
NM_001363875.1:c.578T>G	NP_001350804.1:p.Leu193Arg
XM_005264516.5:c.578T>G	XP_005264573.1:p.Leu193Arg
XM_011533067.2:c.581T>G	XP_011531369.1:p.Leu194Arg
XM_017004778.2:c.581T>G	XP_016860267.1:p.Leu194Arg
NM_001363823.2:c.578T>G	NP_001350752.1:p.Leu193Arg
NM_001363875.2:c.578T>G	NP_001350804.1:p.Leu193Arg
NM_001377959.1:c.581T>G	NP_001364888.1:p.Leu194Arg
NM_014946.4:c.581T>G MANE Select	NP_055761.2:p.Leu194Arg
NM_199436.2:c.581T>G	NP_955468.1:p.Leu194Arg