Canonical Allele Identifier: CA16616713

Gene: SPAST

Linked Data

• ClinVar Variation Id: 417628
• ClinVar RCV Id: RCV000476656 ; RCV001848846
• dbSNP Id: rs1060499939
• MyVariant Identifiers: chr2:g.32362241G>C (hg19) ; chr2:g.32137172G>C (hg38)
• PubMed: PMID:27276562

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137172G>C , CM000664.2:g.32137172G>C	GRCh38
NC_000002.11:g.32362241G>C , CM000664.1:g.32362241G>C	GRCh37
NC_000002.10:g.32215745G>C	NCBI36
NG_008730.1:g.78562G>C , LRG_714:g.78562G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1137G>C	ENSP00000515816.1:n.*1137G>C
ENST00000315285.9:c.1477G>C MANE Select	ENSP00000320885.3:p.Asp493His
ENST00000621856.2:c.1474G>C	ENSP00000482496.2:p.Asp492His
ENST00000642281.1:c.1214G>C
ENST00000642455.1:c.1378G>C	ENSP00000493827.1:p.Asp460His
ENST00000642751.1:c.1251G>C
ENST00000642999.1:c.1219G>C	ENSP00000496589.1:p.Asp407His
ENST00000643327.1:c.544G>C
ENST00000643334.1:c.1057G>C
ENST00000644408.1:c.1353G>C
ENST00000644954.1:c.1123G>C	ENSP00000494312.1:p.Asp375His
ENST00000645159.1:n.2214G>C
ENST00000645671.1:c.927G>C
ENST00000645730.1:c.656G>C
ENST00000646082.1:c.1123G>C
ENST00000646571.1:c.1381G>C	ENSP00000495015.1:p.Asp461His
ENST00000647007.1:n.1169G>C
ENST00000647133.1:c.977G>C
ENST00000315285.7:c.1477G>C	ENSP00000320885.3:p.Asp493His
ENST00000345662.5:c.1381G>C	ENSP00000340817.1:p.Asp461His
ENST00000615843.4:c.1477G>C	ENSP00000480893.1:p.Asp493His
ENST00000621856.1:c.1219G>C	ENSP00000482496.1:p.Asp407His
NM_014946.3:c.1477G>C , LRG_714t1:c.1477G>C	NP_055761.2:p.Asp493His
NM_199436.1:c.1381G>C	NP_955468.1:p.Asp461His
XM_005264516.3:c.1474G>C	XP_005264573.1:p.Asp492His
XM_011533067.1:c.1477G>C	XP_011531369.1:p.Asp493His
NM_001363823.1:c.1474G>C	NP_001350752.1:p.Asp492His
NM_001363875.1:c.1378G>C	NP_001350804.1:p.Asp460His
XM_005264516.5:c.1474G>C	XP_005264573.1:p.Asp492His
XM_011533067.2:c.1477G>C	XP_011531369.1:p.Asp493His
XM_017004778.2:c.1381G>C	XP_016860267.1:p.Asp461His
NM_001363823.2:c.1474G>C	NP_001350752.1:p.Asp492His
NM_001363875.2:c.1378G>C	NP_001350804.1:p.Asp460His
NM_001377959.1:c.1381G>C	NP_001364888.1:p.Asp461His
NM_014946.4:c.1477G>C MANE Select	NP_055761.2:p.Asp493His
NM_199436.2:c.1381G>C	NP_955468.1:p.Asp461His