Canonical Allele Identifier: CA346501502

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1070822
• ClinVar RCV Id: RCV001383109 ; RCV003482368
• dbSNP Id: rs1553317045
• gnomAD v4: 2-32128472-C-A
• MyVariant Identifiers: chr2:g.32353541C>A (hg19) ; chr2:g.32128472C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128472C>A , CM000664.2:g.32128472C>A	GRCh38
NC_000002.11:g.32353541C>A , CM000664.1:g.32353541C>A	GRCh37
NC_000002.10:g.32207045C>A	NCBI36
NG_008730.1:g.69862C>A , LRG_714:g.69862C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*898C>A	ENSP00000515816.1:n.*898C>A
ENST00000315285.9:c.1238C>A MANE Select	ENSP00000320885.3:p.Ser413Ter
ENST00000621856.2:c.1235C>A	ENSP00000482496.2:p.Ser412Ter
ENST00000642281.1:c.983-8091C>A
ENST00000642455.1:c.1139C>A	ENSP00000493827.1:p.Ser380Ter
ENST00000642751.1:c.1012C>A
ENST00000642999.1:c.980C>A	ENSP00000496589.1:p.Ser327Ter
ENST00000643327.1:c.397C>A
ENST00000643334.1:c.818C>A
ENST00000644408.1:c.1114C>A
ENST00000644954.1:c.884C>A	ENSP00000494312.1:p.Ser295Ter
ENST00000645159.1:n.1975C>A
ENST00000645550.1:n.451C>A
ENST00000645671.1:c.688C>A
ENST00000645730.1:c.585C>A
ENST00000646082.1:c.884C>A
ENST00000646571.1:c.1142C>A	ENSP00000495015.1:p.Ser381Ter
ENST00000647007.1:n.930C>A
ENST00000647133.1:c.738C>A
ENST00000315285.7:c.1238C>A	ENSP00000320885.3:p.Ser413Ter
ENST00000345662.5:c.1142C>A	ENSP00000340817.1:p.Ser381Ter
ENST00000615843.4:c.1238C>A	ENSP00000480893.1:p.Ser413Ter
ENST00000621856.1:c.980C>A	ENSP00000482496.1:p.Ser327Ter
NM_014946.3:c.1238C>A , LRG_714t1:c.1238C>A	NP_055761.2:p.Ser413Ter
NM_199436.1:c.1142C>A	NP_955468.1:p.Ser381Ter
XM_005264516.3:c.1235C>A	XP_005264573.1:p.Ser412Ter
XM_011533067.1:c.1238C>A	XP_011531369.1:p.Ser413Ter
NM_001363823.1:c.1235C>A	NP_001350752.1:p.Ser412Ter
NM_001363875.1:c.1139C>A	NP_001350804.1:p.Ser380Ter
XM_005264516.5:c.1235C>A	XP_005264573.1:p.Ser412Ter
XM_011533067.2:c.1238C>A	XP_011531369.1:p.Ser413Ter
XM_017004778.2:c.1142C>A	XP_016860267.1:p.Ser381Ter
NM_001363823.2:c.1235C>A	NP_001350752.1:p.Ser412Ter
NM_001363875.2:c.1139C>A	NP_001350804.1:p.Ser380Ter
NM_001377959.1:c.1142C>A	NP_001364888.1:p.Ser381Ter
NM_014946.4:c.1238C>A MANE Select	NP_055761.2:p.Ser413Ter
NM_199436.2:c.1142C>A	NP_955468.1:p.Ser381Ter