Canonical Allele Identifier: CA1600833

Gene: SPAST

Linked Data

• ClinVar Variation Id: 2968825
• ClinVar RCV Id: RCV003829471
• dbSNP Id: rs746765188
• ExAC: 2:32353462 T / C
• gnomAD v2: 2-32353462-T-C
• gnomAD v4: 2-32128393-T-C
• MyVariant Identifiers: chr2:g.32353462T>C (hg19) ; chr2:g.32128393T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128393T>C , CM000664.2:g.32128393T>C	GRCh38
NC_000002.11:g.32353462T>C , CM000664.1:g.32353462T>C	GRCh37
NC_000002.10:g.32206966T>C	NCBI36
NG_008730.1:g.69783T>C , LRG_714:g.69783T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*834-15T>C	ENSP00000515816.1:n.*834-15T>C
ENST00000315285.9:c.1174-15T>C MANE Select	ENSP00000320885.3:n.1174-15T>C
ENST00000621856.2:c.1171-15T>C	ENSP00000482496.2:n.1171-15T>C
ENST00000642281.1:c.983-8170T>C
ENST00000642455.1:c.1075-15T>C	ENSP00000493827.1:n.1075-15T>C
ENST00000642751.1:c.948-15T>C
ENST00000642999.1:c.916-15T>C	ENSP00000496589.1:n.916-15T>C
ENST00000643327.1:c.333-15T>C
ENST00000643334.1:c.754-15T>C
ENST00000644408.1:c.1050-15T>C
ENST00000644954.1:c.820-15T>C	ENSP00000494312.1:n.820-15T>C
ENST00000645159.1:n.1896T>C
ENST00000645550.1:n.387-15T>C
ENST00000645671.1:c.624-15T>C
ENST00000645730.1:c.521-15T>C
ENST00000646082.1:c.820-15T>C
ENST00000646571.1:c.1078-15T>C	ENSP00000495015.1:n.1078-15T>C
ENST00000647007.1:n.866-15T>C
ENST00000647133.1:c.674-15T>C
ENST00000315285.7:c.1174-15T>C	ENSP00000320885.3:n.1174-15T>C
ENST00000345662.5:c.1078-15T>C	ENSP00000340817.1:n.1078-15T>C
ENST00000615843.4:c.1174-15T>C	ENSP00000480893.1:n.1174-15T>C
ENST00000621856.1:c.916-15T>C	ENSP00000482496.1:n.916-15T>C
NM_014946.3:c.1174-15T>C , LRG_714t1:c.1174-15T>C	NP_055761.2:n.1174-15T>C
NM_199436.1:c.1078-15T>C	NP_955468.1:n.1078-15T>C
XM_005264516.3:c.1171-15T>C	XP_005264573.1:n.1171-15T>C
XM_011533067.1:c.1174-15T>C	XP_011531369.1:n.1174-15T>C
NM_001363823.1:c.1171-15T>C	NP_001350752.1:n.1171-15T>C
NM_001363875.1:c.1075-15T>C	NP_001350804.1:n.1075-15T>C
XM_005264516.5:c.1171-15T>C	XP_005264573.1:n.1171-15T>C
XM_011533067.2:c.1174-15T>C	XP_011531369.1:n.1174-15T>C
XM_017004778.2:c.1078-15T>C	XP_016860267.1:n.1078-15T>C
NM_001363823.2:c.1171-15T>C	NP_001350752.1:n.1171-15T>C
NM_001363875.2:c.1075-15T>C	NP_001350804.1:n.1075-15T>C
NM_001377959.1:c.1078-15T>C	NP_001364888.1:n.1078-15T>C
NM_014946.4:c.1174-15T>C MANE Select	NP_055761.2:n.1174-15T>C
NM_199436.2:c.1078-15T>C	NP_955468.1:n.1078-15T>C