Canonical Allele Identifier: CA2658522782

Gene: SPAST

Linked Data

• gnomAD v4: 2-32142062-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32142062T>G , CM000664.2:g.32142062T>G	GRCh38
NC_000002.11:g.32367131T>G , CM000664.1:g.32367131T>G	GRCh37
NC_000002.10:g.32220635T>G	NCBI36
NG_008730.1:g.83452T>G , LRG_714:g.83452T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1196+116T>G	ENSP00000515816.1:n.*1196+116T>G
ENST00000315285.9:c.1536+116T>G MANE Select	ENSP00000320885.3:n.1536+116T>G
ENST00000621856.2:c.1533+116T>G	ENSP00000482496.2:n.1533+116T>G
ENST00000642281.1:c.1273+116T>G
ENST00000642455.1:c.1437+116T>G	ENSP00000493827.1:n.1437+116T>G
ENST00000642751.1:c.1310+116T>G
ENST00000642999.1:c.1278+116T>G	ENSP00000496589.1:n.1278+116T>G
ENST00000643327.1:c.603+116T>G
ENST00000643334.1:c.1116+116T>G
ENST00000644408.1:c.1412+116T>G
ENST00000644954.1:c.1182+116T>G	ENSP00000494312.1:n.1182+116T>G
ENST00000645159.1:n.2273+116T>G
ENST00000645671.1:c.986+116T>G
ENST00000645730.1:c.715+116T>G
ENST00000646082.1:c.1182+116T>G
ENST00000646571.1:c.1440+116T>G	ENSP00000495015.1:n.1440+116T>G
ENST00000647007.1:n.1228+116T>G
ENST00000647133.1:c.1036+116T>G
ENST00000315285.7:c.1536+116T>G	ENSP00000320885.3:n.1536+116T>G
ENST00000345662.5:c.1440+116T>G	ENSP00000340817.1:n.1440+116T>G
ENST00000615843.4:c.1536+116T>G	ENSP00000480893.1:n.1536+116T>G
ENST00000621856.1:c.1278+116T>G	ENSP00000482496.1:n.1278+116T>G
NM_014946.3:c.1536+116T>G , LRG_714t1:c.1536+116T>G	NP_055761.2:n.1536+116T>G
NM_199436.1:c.1440+116T>G	NP_955468.1:n.1440+116T>G
XM_005264516.3:c.1533+116T>G	XP_005264573.1:n.1533+116T>G
XM_011533067.1:c.1536+116T>G	XP_011531369.1:n.1536+116T>G
NM_001363823.1:c.1533+116T>G	NP_001350752.1:n.1533+116T>G
NM_001363875.1:c.1437+116T>G	NP_001350804.1:n.1437+116T>G
XM_005264516.5:c.1533+116T>G	XP_005264573.1:n.1533+116T>G
XM_011533067.2:c.1536+116T>G	XP_011531369.1:n.1536+116T>G
XM_017004778.2:c.1440+116T>G	XP_016860267.1:n.1440+116T>G
NM_001363823.2:c.1533+116T>G	NP_001350752.1:n.1533+116T>G
NM_001363875.2:c.1437+116T>G	NP_001350804.1:n.1437+116T>G
NM_001377959.1:c.1440+116T>G	NP_001364888.1:n.1440+116T>G
NM_014946.4:c.1536+116T>G MANE Select	NP_055761.2:n.1536+116T>G
NM_199436.2:c.1440+116T>G	NP_955468.1:n.1440+116T>G