Canonical Allele Identifier: CA346501379

Gene: SPAST

Linked Data

• dbSNP Id: rs1679264171
• gnomAD v3: 2-32128417-G-A
• gnomAD v4: 2-32128417-G-A
• MyVariant Identifiers: chr2:g.32353486G>A (hg19) ; chr2:g.32128417G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128417G>A , CM000664.2:g.32128417G>A	GRCh38
NC_000002.11:g.32353486G>A , CM000664.1:g.32353486G>A	GRCh37
NC_000002.10:g.32206990G>A	NCBI36
NG_008730.1:g.69807G>A , LRG_714:g.69807G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*843G>A	ENSP00000515816.1:n.*843G>A
ENST00000315285.9:c.1183G>A MANE Select	ENSP00000320885.3:p.Val395Ile
ENST00000621856.2:c.1180G>A	ENSP00000482496.2:p.Val394Ile
ENST00000642281.1:c.983-8146G>A
ENST00000642455.1:c.1084G>A	ENSP00000493827.1:p.Val362Ile
ENST00000642751.1:c.957G>A
ENST00000642999.1:c.925G>A	ENSP00000496589.1:p.Val309Ile
ENST00000643327.1:c.342G>A
ENST00000643334.1:c.763G>A
ENST00000644408.1:c.1059G>A
ENST00000644954.1:c.829G>A	ENSP00000494312.1:p.Val277Ile
ENST00000645159.1:n.1920G>A
ENST00000645550.1:n.396G>A
ENST00000645671.1:c.633G>A
ENST00000645730.1:c.530G>A
ENST00000646082.1:c.829G>A
ENST00000646571.1:c.1087G>A	ENSP00000495015.1:p.Val363Ile
ENST00000647007.1:n.875G>A
ENST00000647133.1:c.683G>A
ENST00000315285.7:c.1183G>A	ENSP00000320885.3:p.Val395Ile
ENST00000345662.5:c.1087G>A	ENSP00000340817.1:p.Val363Ile
ENST00000615843.4:c.1183G>A	ENSP00000480893.1:p.Val395Ile
ENST00000621856.1:c.925G>A	ENSP00000482496.1:p.Val309Ile
NM_014946.3:c.1183G>A , LRG_714t1:c.1183G>A	NP_055761.2:p.Val395Ile
NM_199436.1:c.1087G>A	NP_955468.1:p.Val363Ile
XM_005264516.3:c.1180G>A	XP_005264573.1:p.Val394Ile
XM_011533067.1:c.1183G>A	XP_011531369.1:p.Val395Ile
NM_001363823.1:c.1180G>A	NP_001350752.1:p.Val394Ile
NM_001363875.1:c.1084G>A	NP_001350804.1:p.Val362Ile
XM_005264516.5:c.1180G>A	XP_005264573.1:p.Val394Ile
XM_011533067.2:c.1183G>A	XP_011531369.1:p.Val395Ile
XM_017004778.2:c.1087G>A	XP_016860267.1:p.Val363Ile
NM_001363823.2:c.1180G>A	NP_001350752.1:p.Val394Ile
NM_001363875.2:c.1084G>A	NP_001350804.1:p.Val362Ile
NM_001377959.1:c.1087G>A	NP_001364888.1:p.Val363Ile
NM_014946.4:c.1183G>A MANE Select	NP_055761.2:p.Val395Ile
NM_199436.2:c.1087G>A	NP_955468.1:p.Val363Ile