Canonical Allele Identifier: CA346501865

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1686225
• ClinVar RCV Id: RCV002246738
• dbSNP Id: rs2148753634
• MyVariant Identifiers: chr2:g.32361645A>G (hg19) ; chr2:g.32136576A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136576A>G , CM000664.2:g.32136576A>G	GRCh38
NC_000002.11:g.32361645A>G , CM000664.1:g.32361645A>G	GRCh37
NC_000002.10:g.32215149A>G	NCBI36
NG_008730.1:g.77966A>G , LRG_714:g.77966A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*919A>G	ENSP00000515816.1:n.*919A>G
ENST00000315285.9:c.1259A>G MANE Select	ENSP00000320885.3:p.Glu420Gly
ENST00000621856.2:c.1256A>G	ENSP00000482496.2:p.Glu419Gly
ENST00000642281.1:c.996A>G
ENST00000642455.1:c.1160A>G	ENSP00000493827.1:p.Glu387Gly
ENST00000642751.1:c.1033A>G
ENST00000642999.1:c.1001A>G	ENSP00000496589.1:p.Glu334Gly
ENST00000643327.1:c.418A>G
ENST00000643334.1:c.839A>G
ENST00000644408.1:c.1135A>G
ENST00000644954.1:c.905A>G	ENSP00000494312.1:p.Glu302Gly
ENST00000645159.1:n.1996A>G
ENST00000645671.1:c.709A>G
ENST00000645730.1:c.593-533A>G
ENST00000646082.1:c.905A>G
ENST00000646571.1:c.1163A>G	ENSP00000495015.1:p.Glu388Gly
ENST00000647007.1:n.951A>G
ENST00000647133.1:c.759A>G
ENST00000315285.7:c.1259A>G	ENSP00000320885.3:p.Glu420Gly
ENST00000345662.5:c.1163A>G	ENSP00000340817.1:p.Glu388Gly
ENST00000615843.4:c.1259A>G	ENSP00000480893.1:p.Glu420Gly
ENST00000621856.1:c.1001A>G	ENSP00000482496.1:p.Glu334Gly
NM_014946.3:c.1259A>G , LRG_714t1:c.1259A>G	NP_055761.2:p.Glu420Gly
NM_199436.1:c.1163A>G	NP_955468.1:p.Glu388Gly
XM_005264516.3:c.1256A>G	XP_005264573.1:p.Glu419Gly
XM_011533067.1:c.1259A>G	XP_011531369.1:p.Glu420Gly
NM_001363823.1:c.1256A>G	NP_001350752.1:p.Glu419Gly
NM_001363875.1:c.1160A>G	NP_001350804.1:p.Glu387Gly
XM_005264516.5:c.1256A>G	XP_005264573.1:p.Glu419Gly
XM_011533067.2:c.1259A>G	XP_011531369.1:p.Glu420Gly
XM_017004778.2:c.1163A>G	XP_016860267.1:p.Glu388Gly
NM_001363823.2:c.1256A>G	NP_001350752.1:p.Glu419Gly
NM_001363875.2:c.1160A>G	NP_001350804.1:p.Glu387Gly
NM_001377959.1:c.1163A>G	NP_001364888.1:p.Glu388Gly
NM_014946.4:c.1259A>G MANE Select	NP_055761.2:p.Glu420Gly
NM_199436.2:c.1163A>G	NP_955468.1:p.Glu388Gly