Canonical Allele Identifier: CA1600890

Gene: SPAST

Linked Data

• dbSNP Id: rs558596516
• ExAC: 2:32362144 C / T
• gnomAD v2: 2-32362144-C-T
• gnomAD v4: 2-32137075-C-T
• MyVariant Identifiers: chr2:g.32362144C>T (hg19) ; chr2:g.32137075C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137075C>T , CM000664.2:g.32137075C>T	GRCh38
NC_000002.11:g.32362144C>T , CM000664.1:g.32362144C>T	GRCh37
NC_000002.10:g.32215648C>T	NCBI36
NG_008730.1:g.78465C>T , LRG_714:g.78465C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1074-34C>T	ENSP00000515816.1:n.*1074-34C>T
ENST00000315285.9:c.1414-34C>T MANE Select	ENSP00000320885.3:n.1414-34C>T
ENST00000621856.2:c.1411-34C>T	ENSP00000482496.2:n.1411-34C>T
ENST00000642281.1:c.1151-34C>T
ENST00000642455.1:c.1315-34C>T	ENSP00000493827.1:n.1315-34C>T
ENST00000642751.1:c.1188-34C>T
ENST00000642999.1:c.1156-34C>T	ENSP00000496589.1:n.1156-34C>T
ENST00000643327.1:c.481-34C>T
ENST00000643334.1:c.994-34C>T
ENST00000644408.1:c.1290-34C>T
ENST00000644954.1:c.1060-34C>T	ENSP00000494312.1:n.1060-34C>T
ENST00000645159.1:n.2151-34C>T
ENST00000645671.1:c.864-34C>T
ENST00000645730.1:c.593-34C>T
ENST00000646082.1:c.1060-34C>T
ENST00000646571.1:c.1318-34C>T	ENSP00000495015.1:n.1318-34C>T
ENST00000647007.1:n.1106-34C>T
ENST00000647133.1:c.914-34C>T
ENST00000315285.7:c.1414-34C>T	ENSP00000320885.3:n.1414-34C>T
ENST00000345662.5:c.1318-34C>T	ENSP00000340817.1:n.1318-34C>T
ENST00000615843.4:c.1414-34C>T	ENSP00000480893.1:n.1414-34C>T
ENST00000621856.1:c.1156-34C>T	ENSP00000482496.1:n.1156-34C>T
NM_014946.3:c.1414-34C>T , LRG_714t1:c.1414-34C>T	NP_055761.2:n.1414-34C>T
NM_199436.1:c.1318-34C>T	NP_955468.1:n.1318-34C>T
XM_005264516.3:c.1411-34C>T	XP_005264573.1:n.1411-34C>T
XM_011533067.1:c.1414-34C>T	XP_011531369.1:n.1414-34C>T
NM_001363823.1:c.1411-34C>T	NP_001350752.1:n.1411-34C>T
NM_001363875.1:c.1315-34C>T	NP_001350804.1:n.1315-34C>T
XM_005264516.5:c.1411-34C>T	XP_005264573.1:n.1411-34C>T
XM_011533067.2:c.1414-34C>T	XP_011531369.1:n.1414-34C>T
XM_017004778.2:c.1318-34C>T	XP_016860267.1:n.1318-34C>T
NM_001363823.2:c.1411-34C>T	NP_001350752.1:n.1411-34C>T
NM_001363875.2:c.1315-34C>T	NP_001350804.1:n.1315-34C>T
NM_001377959.1:c.1318-34C>T	NP_001364888.1:n.1318-34C>T
NM_014946.4:c.1414-34C>T MANE Select	NP_055761.2:n.1414-34C>T
NM_199436.2:c.1318-34C>T	NP_955468.1:n.1318-34C>T