Canonical Allele Identifier: CA346501410

Gene: SPAST

Linked Data

• ClinVar Variation Id: 448442
• ClinVar RCV Id: RCV000516537 ; RCV000686298
• dbSNP Id: rs1553317025
• MyVariant Identifiers: chr2:g.32353499C>T (hg19) ; chr2:g.32128430C>T (hg38)
• PubMed: PMID:11843700 ; PMID:16832076 ; PMID:18701882 ; PMID:24824479

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128430C>T , CM000664.2:g.32128430C>T	GRCh38
NC_000002.11:g.32353499C>T , CM000664.1:g.32353499C>T	GRCh37
NC_000002.10:g.32207003C>T	NCBI36
NG_008730.1:g.69820C>T , LRG_714:g.69820C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*856C>T	ENSP00000515816.1:n.*856C>T
ENST00000315285.9:c.1196C>T MANE Select	ENSP00000320885.3:p.Ser399Leu
ENST00000621856.2:c.1193C>T	ENSP00000482496.2:p.Ser398Leu
ENST00000642281.1:c.983-8133C>T
ENST00000642455.1:c.1097C>T	ENSP00000493827.1:p.Ser366Leu
ENST00000642751.1:c.970C>T
ENST00000642999.1:c.938C>T	ENSP00000496589.1:p.Ser313Leu
ENST00000643327.1:c.355C>T
ENST00000643334.1:c.776C>T
ENST00000644408.1:c.1072C>T
ENST00000644954.1:c.842C>T	ENSP00000494312.1:p.Ser281Leu
ENST00000645159.1:n.1933C>T
ENST00000645550.1:n.409C>T
ENST00000645671.1:c.646C>T
ENST00000645730.1:c.543C>T
ENST00000646082.1:c.842C>T
ENST00000646571.1:c.1100C>T	ENSP00000495015.1:p.Ser367Leu
ENST00000647007.1:n.888C>T
ENST00000647133.1:c.696C>T
ENST00000315285.7:c.1196C>T	ENSP00000320885.3:p.Ser399Leu
ENST00000345662.5:c.1100C>T	ENSP00000340817.1:p.Ser367Leu
ENST00000615843.4:c.1196C>T	ENSP00000480893.1:p.Ser399Leu
ENST00000621856.1:c.938C>T	ENSP00000482496.1:p.Ser313Leu
NM_014946.3:c.1196C>T , LRG_714t1:c.1196C>T	NP_055761.2:p.Ser399Leu
NM_199436.1:c.1100C>T	NP_955468.1:p.Ser367Leu
XM_005264516.3:c.1193C>T	XP_005264573.1:p.Ser398Leu
XM_011533067.1:c.1196C>T	XP_011531369.1:p.Ser399Leu
NM_001363823.1:c.1193C>T	NP_001350752.1:p.Ser398Leu
NM_001363875.1:c.1097C>T	NP_001350804.1:p.Ser366Leu
XM_005264516.5:c.1193C>T	XP_005264573.1:p.Ser398Leu
XM_011533067.2:c.1196C>T	XP_011531369.1:p.Ser399Leu
XM_017004778.2:c.1100C>T	XP_016860267.1:p.Ser367Leu
NM_001363823.2:c.1193C>T	NP_001350752.1:p.Ser398Leu
NM_001363875.2:c.1097C>T	NP_001350804.1:p.Ser366Leu
NM_001377959.1:c.1100C>T	NP_001364888.1:p.Ser367Leu
NM_014946.4:c.1196C>T MANE Select	NP_055761.2:p.Ser399Leu
NM_199436.2:c.1100C>T	NP_955468.1:p.Ser367Leu