Canonical Allele Identifier: CA346502115

Gene: SPAST

Linked Data

• gnomAD v4: 2-32136626-A-G
• MyVariant Identifiers: chr2:g.32361695A>G (hg19) ; chr2:g.32136626A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136626A>G , CM000664.2:g.32136626A>G	GRCh38
NC_000002.11:g.32361695A>G , CM000664.1:g.32361695A>G	GRCh37
NC_000002.10:g.32215199A>G	NCBI36
NG_008730.1:g.78016A>G , LRG_714:g.78016A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*969A>G	ENSP00000515816.1:n.*969A>G
ENST00000315285.9:c.1309A>G MANE Select	ENSP00000320885.3:p.Ile437Val
ENST00000621856.2:c.1306A>G	ENSP00000482496.2:p.Ile436Val
ENST00000642281.1:c.1046A>G
ENST00000642455.1:c.1210A>G	ENSP00000493827.1:p.Ile404Val
ENST00000642751.1:c.1083A>G
ENST00000642999.1:c.1051A>G	ENSP00000496589.1:p.Ile351Val
ENST00000643327.1:c.468A>G
ENST00000643334.1:c.889A>G
ENST00000644408.1:c.1185A>G
ENST00000644954.1:c.955A>G	ENSP00000494312.1:p.Ile319Val
ENST00000645159.1:n.2046A>G
ENST00000645671.1:c.759A>G
ENST00000645730.1:c.593-483A>G
ENST00000646082.1:c.955A>G
ENST00000646571.1:c.1213A>G	ENSP00000495015.1:p.Ile405Val
ENST00000647007.1:n.1001A>G
ENST00000647133.1:c.809A>G
ENST00000315285.7:c.1309A>G	ENSP00000320885.3:p.Ile437Val
ENST00000345662.5:c.1213A>G	ENSP00000340817.1:p.Ile405Val
ENST00000615843.4:c.1309A>G	ENSP00000480893.1:p.Ile437Val
ENST00000621856.1:c.1051A>G	ENSP00000482496.1:p.Ile351Val
NM_014946.3:c.1309A>G , LRG_714t1:c.1309A>G	NP_055761.2:p.Ile437Val
NM_199436.1:c.1213A>G	NP_955468.1:p.Ile405Val
XM_005264516.3:c.1306A>G	XP_005264573.1:p.Ile436Val
XM_011533067.1:c.1309A>G	XP_011531369.1:p.Ile437Val
NM_001363823.1:c.1306A>G	NP_001350752.1:p.Ile436Val
NM_001363875.1:c.1210A>G	NP_001350804.1:p.Ile404Val
XM_005264516.5:c.1306A>G	XP_005264573.1:p.Ile436Val
XM_011533067.2:c.1309A>G	XP_011531369.1:p.Ile437Val
XM_017004778.2:c.1213A>G	XP_016860267.1:p.Ile405Val
NM_001363823.2:c.1306A>G	NP_001350752.1:p.Ile436Val
NM_001363875.2:c.1210A>G	NP_001350804.1:p.Ile404Val
NM_001377959.1:c.1213A>G	NP_001364888.1:p.Ile405Val
NM_014946.4:c.1309A>G MANE Select	NP_055761.2:p.Ile437Val
NM_199436.2:c.1213A>G	NP_955468.1:p.Ile405Val