Canonical Allele Identifier: CA346501472

Gene: SPAST

Linked Data

• ClinVar Variation Id: 586656
• ClinVar RCV Id: RCV000713460 ; RCV001209308
• dbSNP Id: rs1553317043
• MyVariant Identifiers: chr2:g.32353526C>T (hg19) ; chr2:g.32128457C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128457C>T , CM000664.2:g.32128457C>T	GRCh38
NC_000002.11:g.32353526C>T , CM000664.1:g.32353526C>T	GRCh37
NC_000002.10:g.32207030C>T	NCBI36
NG_008730.1:g.69847C>T , LRG_714:g.69847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*883C>T	ENSP00000515816.1:n.*883C>T
ENST00000315285.9:c.1223C>T MANE Select	ENSP00000320885.3:p.Ala408Val
ENST00000621856.2:c.1220C>T	ENSP00000482496.2:p.Ala407Val
ENST00000642281.1:c.983-8106C>T
ENST00000642455.1:c.1124C>T	ENSP00000493827.1:p.Ala375Val
ENST00000642751.1:c.997C>T
ENST00000642999.1:c.965C>T	ENSP00000496589.1:p.Ala322Val
ENST00000643327.1:c.382C>T
ENST00000643334.1:c.803C>T
ENST00000644408.1:c.1099C>T
ENST00000644954.1:c.869C>T	ENSP00000494312.1:p.Ala290Val
ENST00000645159.1:n.1960C>T
ENST00000645550.1:n.436C>T
ENST00000645671.1:c.673C>T
ENST00000645730.1:c.570C>T
ENST00000646082.1:c.869C>T
ENST00000646571.1:c.1127C>T	ENSP00000495015.1:p.Ala376Val
ENST00000647007.1:n.915C>T
ENST00000647133.1:c.723C>T
ENST00000315285.7:c.1223C>T	ENSP00000320885.3:p.Ala408Val
ENST00000345662.5:c.1127C>T	ENSP00000340817.1:p.Ala376Val
ENST00000615843.4:c.1223C>T	ENSP00000480893.1:p.Ala408Val
ENST00000621856.1:c.965C>T	ENSP00000482496.1:p.Ala322Val
NM_014946.3:c.1223C>T , LRG_714t1:c.1223C>T	NP_055761.2:p.Ala408Val
NM_199436.1:c.1127C>T	NP_955468.1:p.Ala376Val
XM_005264516.3:c.1220C>T	XP_005264573.1:p.Ala407Val
XM_011533067.1:c.1223C>T	XP_011531369.1:p.Ala408Val
NM_001363823.1:c.1220C>T	NP_001350752.1:p.Ala407Val
NM_001363875.1:c.1124C>T	NP_001350804.1:p.Ala375Val
XM_005264516.5:c.1220C>T	XP_005264573.1:p.Ala407Val
XM_011533067.2:c.1223C>T	XP_011531369.1:p.Ala408Val
XM_017004778.2:c.1127C>T	XP_016860267.1:p.Ala376Val
NM_001363823.2:c.1220C>T	NP_001350752.1:p.Ala407Val
NM_001363875.2:c.1124C>T	NP_001350804.1:p.Ala375Val
NM_001377959.1:c.1127C>T	NP_001364888.1:p.Ala376Val
NM_014946.4:c.1223C>T MANE Select	NP_055761.2:p.Ala408Val
NM_199436.2:c.1127C>T	NP_955468.1:p.Ala376Val