Canonical Allele Identifier: CA346501228

Gene: SPAST

Linked Data

• dbSNP Id: rs1679214464
• gnomAD v3: 2-32126966-G-A
• gnomAD v4: 2-32126966-G-A
• MyVariant Identifiers: chr2:g.32352035G>A (hg19) ; chr2:g.32126966G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126966G>A , CM000664.2:g.32126966G>A	GRCh38
NC_000002.11:g.32352035G>A , CM000664.1:g.32352035G>A	GRCh37
NC_000002.10:g.32205539G>A	NCBI36
NG_008730.1:g.68356G>A , LRG_714:g.68356G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*777G>A	ENSP00000515816.1:n.*777G>A
ENST00000315285.9:c.1117G>A MANE Select	ENSP00000320885.3:p.Ala373Thr
ENST00000621856.2:c.1114G>A	ENSP00000482496.2:p.Ala372Thr
ENST00000642281.1:c.983-9597G>A
ENST00000642455.1:c.1018G>A	ENSP00000493827.1:p.Ala340Thr
ENST00000642751.1:c.891G>A
ENST00000642999.1:c.859G>A	ENSP00000496589.1:p.Ala287Thr
ENST00000643327.1:c.276G>A
ENST00000643334.1:c.697G>A
ENST00000644408.1:c.993G>A
ENST00000644954.1:c.763G>A	ENSP00000494312.1:p.Ala255Thr
ENST00000645159.1:n.469G>A
ENST00000645550.1:n.330G>A
ENST00000645671.1:c.567G>A
ENST00000645730.1:c.464G>A
ENST00000646082.1:c.763G>A
ENST00000646571.1:c.1021G>A	ENSP00000495015.1:p.Ala341Thr
ENST00000647007.1:n.809G>A
ENST00000647133.1:c.674-1442G>A
ENST00000315285.7:c.1117G>A	ENSP00000320885.3:p.Ala373Thr
ENST00000345662.5:c.1021G>A	ENSP00000340817.1:p.Ala341Thr
ENST00000615843.4:c.1117G>A	ENSP00000480893.1:p.Ala373Thr
ENST00000621856.1:c.859G>A	ENSP00000482496.1:p.Ala287Thr
NM_014946.3:c.1117G>A , LRG_714t1:c.1117G>A	NP_055761.2:p.Ala373Thr
NM_199436.1:c.1021G>A	NP_955468.1:p.Ala341Thr
XM_005264516.3:c.1114G>A	XP_005264573.1:p.Ala372Thr
XM_011533067.1:c.1117G>A	XP_011531369.1:p.Ala373Thr
NM_001363823.1:c.1114G>A	NP_001350752.1:p.Ala372Thr
NM_001363875.1:c.1018G>A	NP_001350804.1:p.Ala340Thr
XM_005264516.5:c.1114G>A	XP_005264573.1:p.Ala372Thr
XM_011533067.2:c.1117G>A	XP_011531369.1:p.Ala373Thr
XM_017004778.2:c.1021G>A	XP_016860267.1:p.Ala341Thr
NM_001363823.2:c.1114G>A	NP_001350752.1:p.Ala372Thr
NM_001363875.2:c.1018G>A	NP_001350804.1:p.Ala340Thr
NM_001377959.1:c.1021G>A	NP_001364888.1:p.Ala341Thr
NM_014946.4:c.1117G>A MANE Select	NP_055761.2:p.Ala373Thr
NM_199436.2:c.1021G>A	NP_955468.1:p.Ala341Thr