Canonical Allele Identifier: CA425448956

Gene: SPAST

Linked Data

• gnomAD v4: 2-32136902-A-G
• MyVariant Identifiers: chr2:g.32361971A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136902A>G , CM000664.2:g.32136902A>G	GRCh38
NC_000002.11:g.32361971A>G , CM000664.1:g.32361971A>G	GRCh37
NC_000002.10:g.32215475A>G	NCBI36
NG_008730.1:g.78292A>G , LRG_714:g.78292A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1007A>G	ENSP00000515816.1:n.*1007A>G
ENST00000315285.9:c.1347A>G MANE Select	ENSP00000320885.3:p.Glu449=
ENST00000621856.2:c.1344A>G	ENSP00000482496.2:p.Glu448=
ENST00000642281.1:c.1084A>G
ENST00000642455.1:c.1248A>G	ENSP00000493827.1:p.Glu416=
ENST00000642751.1:c.1121A>G
ENST00000642999.1:c.1089A>G	ENSP00000496589.1:p.Glu363=
ENST00000643327.1:c.481-207A>G
ENST00000643334.1:c.927A>G
ENST00000644408.1:c.1223A>G
ENST00000644954.1:c.993A>G	ENSP00000494312.1:p.Glu331=
ENST00000645159.1:n.2084A>G
ENST00000645671.1:c.797A>G
ENST00000645730.1:c.593-207A>G
ENST00000646082.1:c.993A>G
ENST00000646571.1:c.1251A>G	ENSP00000495015.1:p.Glu417=
ENST00000647007.1:n.1039A>G
ENST00000647133.1:c.847A>G
ENST00000315285.7:c.1347A>G	ENSP00000320885.3:p.Glu449=
ENST00000345662.5:c.1251A>G	ENSP00000340817.1:p.Glu417=
ENST00000615843.4:c.1347A>G	ENSP00000480893.1:p.Glu449=
ENST00000621856.1:c.1089A>G	ENSP00000482496.1:p.Glu363=
NM_014946.3:c.1347A>G , LRG_714t1:c.1347A>G	NP_055761.2:p.Glu449=
NM_199436.1:c.1251A>G	NP_955468.1:p.Glu417=
XM_005264516.3:c.1344A>G	XP_005264573.1:p.Glu448=
XM_011533067.1:c.1347A>G	XP_011531369.1:p.Glu449=
NM_001363823.1:c.1344A>G	NP_001350752.1:p.Glu448=
NM_001363875.1:c.1248A>G	NP_001350804.1:p.Glu416=
XM_005264516.5:c.1344A>G	XP_005264573.1:p.Glu448=
XM_011533067.2:c.1347A>G	XP_011531369.1:p.Glu449=
XM_017004778.2:c.1251A>G	XP_016860267.1:p.Glu417=
NM_001363823.2:c.1344A>G	NP_001350752.1:p.Glu448=
NM_001363875.2:c.1248A>G	NP_001350804.1:p.Glu416=
NM_001377959.1:c.1251A>G	NP_001364888.1:p.Glu417=
NM_014946.4:c.1347A>G MANE Select	NP_055761.2:p.Glu449=
NM_199436.2:c.1251A>G	NP_955468.1:p.Glu417=