Canonical Allele Identifier: CA346502191

Gene: SPAST

Linked Data

• gnomAD v4: 2-32136891-C-G
• MyVariant Identifiers: chr2:g.32361960C>G (hg19) ; chr2:g.32136891C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136891C>G , CM000664.2:g.32136891C>G	GRCh38
NC_000002.11:g.32361960C>G , CM000664.1:g.32361960C>G	GRCh37
NC_000002.10:g.32215464C>G	NCBI36
NG_008730.1:g.78281C>G , LRG_714:g.78281C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*996C>G	ENSP00000515816.1:n.*996C>G
ENST00000315285.9:c.1336C>G MANE Select	ENSP00000320885.3:p.Leu446Val
ENST00000621856.2:c.1333C>G	ENSP00000482496.2:p.Leu445Val
ENST00000642281.1:c.1073C>G
ENST00000642455.1:c.1237C>G	ENSP00000493827.1:p.Leu413Val
ENST00000642751.1:c.1110C>G
ENST00000642999.1:c.1078C>G	ENSP00000496589.1:p.Leu360Val
ENST00000643327.1:c.481-218C>G
ENST00000643334.1:c.916C>G
ENST00000644408.1:c.1212C>G
ENST00000644954.1:c.982C>G	ENSP00000494312.1:p.Leu328Val
ENST00000645159.1:n.2073C>G
ENST00000645671.1:c.786C>G
ENST00000645730.1:c.593-218C>G
ENST00000646082.1:c.982C>G
ENST00000646571.1:c.1240C>G	ENSP00000495015.1:p.Leu414Val
ENST00000647007.1:n.1028C>G
ENST00000647133.1:c.836C>G
ENST00000315285.7:c.1336C>G	ENSP00000320885.3:p.Leu446Val
ENST00000345662.5:c.1240C>G	ENSP00000340817.1:p.Leu414Val
ENST00000615843.4:c.1336C>G	ENSP00000480893.1:p.Leu446Val
ENST00000621856.1:c.1078C>G	ENSP00000482496.1:p.Leu360Val
NM_014946.3:c.1336C>G , LRG_714t1:c.1336C>G	NP_055761.2:p.Leu446Val
NM_199436.1:c.1240C>G	NP_955468.1:p.Leu414Val
XM_005264516.3:c.1333C>G	XP_005264573.1:p.Leu445Val
XM_011533067.1:c.1336C>G	XP_011531369.1:p.Leu446Val
NM_001363823.1:c.1333C>G	NP_001350752.1:p.Leu445Val
NM_001363875.1:c.1237C>G	NP_001350804.1:p.Leu413Val
XM_005264516.5:c.1333C>G	XP_005264573.1:p.Leu445Val
XM_011533067.2:c.1336C>G	XP_011531369.1:p.Leu446Val
XM_017004778.2:c.1240C>G	XP_016860267.1:p.Leu414Val
NM_001363823.2:c.1333C>G	NP_001350752.1:p.Leu445Val
NM_001363875.2:c.1237C>G	NP_001350804.1:p.Leu413Val
NM_001377959.1:c.1240C>G	NP_001364888.1:p.Leu414Val
NM_014946.4:c.1336C>G MANE Select	NP_055761.2:p.Leu446Val
NM_199436.2:c.1240C>G	NP_955468.1:p.Leu414Val