Canonical Allele Identifier: CA16043827

Gene: SPAST

Linked Data

• ClinVar Variation Id: 374641
• ClinVar RCV Id: RCV000416011 ; RCV001391499 ; RCV004022186
• dbSNP Id: rs1057519181
• MyVariant Identifiers: chr2:g.32341249G>A (hg19) ; chr2:g.32116180G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32116180G>A , CM000664.2:g.32116180G>A	GRCh38
NC_000002.11:g.32341249G>A , CM000664.1:g.32341249G>A	GRCh37
NC_000002.10:g.32194753G>A	NCBI36
NG_008730.1:g.57570G>A , LRG_714:g.57570G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*726G>A	ENSP00000515816.1:n.*726G>A
ENST00000315285.9:c.1066G>A MANE Select	ENSP00000320885.3:p.Glu356Lys
ENST00000621856.2:c.1063G>A	ENSP00000482496.2:p.Glu355Lys
ENST00000642281.1:c.950G>A
ENST00000642455.1:c.967G>A	ENSP00000493827.1:p.Glu323Lys
ENST00000642751.1:c.840G>A
ENST00000642999.1:c.808G>A	ENSP00000496589.1:p.Glu270Lys
ENST00000643327.1:c.225G>A
ENST00000643334.1:c.646G>A
ENST00000644408.1:c.942G>A
ENST00000644954.1:c.712G>A	ENSP00000494312.1:p.Glu238Lys
ENST00000645671.1:c.516G>A
ENST00000645730.1:c.413G>A
ENST00000646082.1:c.712G>A
ENST00000646571.1:c.970G>A	ENSP00000495015.1:p.Glu324Lys
ENST00000647007.1:n.758G>A
ENST00000647133.1:c.641G>A
ENST00000315285.7:c.1066G>A	ENSP00000320885.3:p.Glu356Lys
ENST00000345662.5:c.970G>A	ENSP00000340817.1:p.Glu324Lys
ENST00000615843.4:c.1066G>A	ENSP00000480893.1:p.Glu356Lys
ENST00000621856.1:c.808G>A	ENSP00000482496.1:p.Glu270Lys
NM_014946.3:c.1066G>A , LRG_714t1:c.1066G>A	NP_055761.2:p.Glu356Lys
NM_199436.1:c.970G>A	NP_955468.1:p.Glu324Lys
XM_005264516.3:c.1063G>A	XP_005264573.1:p.Glu355Lys
XM_011533067.1:c.1066G>A	XP_011531369.1:p.Glu356Lys
NM_001363823.1:c.1063G>A	NP_001350752.1:p.Glu355Lys
NM_001363875.1:c.967G>A	NP_001350804.1:p.Glu323Lys
XM_005264516.5:c.1063G>A	XP_005264573.1:p.Glu355Lys
XM_011533067.2:c.1066G>A	XP_011531369.1:p.Glu356Lys
XM_017004778.2:c.970G>A	XP_016860267.1:p.Glu324Lys
NM_001363823.2:c.1063G>A	NP_001350752.1:p.Glu355Lys
NM_001363875.2:c.967G>A	NP_001350804.1:p.Glu323Lys
NM_001377959.1:c.970G>A	NP_001364888.1:p.Glu324Lys
NM_014946.4:c.1066G>A MANE Select	NP_055761.2:p.Glu356Lys
NM_199436.2:c.970G>A	NP_955468.1:p.Glu324Lys