Canonical Allele Identifier: CA346501456

Gene: SPAST

Linked Data

• ClinVar Variation Id: 468563
• ClinVar RCV Id: RCV000524548
• dbSNP Id: rs1553317038
• MyVariant Identifiers: chr2:g.32353520T>C (hg19) ; chr2:g.32128451T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128451T>C , CM000664.2:g.32128451T>C	GRCh38
NC_000002.11:g.32353520T>C , CM000664.1:g.32353520T>C	GRCh37
NC_000002.10:g.32207024T>C	NCBI36
NG_008730.1:g.69841T>C , LRG_714:g.69841T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*877T>C	ENSP00000515816.1:n.*877T>C
ENST00000315285.9:c.1217T>C MANE Select	ENSP00000320885.3:p.Ile406Thr
ENST00000621856.2:c.1214T>C	ENSP00000482496.2:p.Ile405Thr
ENST00000642281.1:c.983-8112T>C
ENST00000642455.1:c.1118T>C	ENSP00000493827.1:p.Ile373Thr
ENST00000642751.1:c.991T>C
ENST00000642999.1:c.959T>C	ENSP00000496589.1:p.Ile320Thr
ENST00000643327.1:c.376T>C
ENST00000643334.1:c.797T>C
ENST00000644408.1:c.1093T>C
ENST00000644954.1:c.863T>C	ENSP00000494312.1:p.Ile288Thr
ENST00000645159.1:n.1954T>C
ENST00000645550.1:n.430T>C
ENST00000645671.1:c.667T>C
ENST00000645730.1:c.564T>C
ENST00000646082.1:c.863T>C
ENST00000646571.1:c.1121T>C	ENSP00000495015.1:p.Ile374Thr
ENST00000647007.1:n.909T>C
ENST00000647133.1:c.717T>C
ENST00000315285.7:c.1217T>C	ENSP00000320885.3:p.Ile406Thr
ENST00000345662.5:c.1121T>C	ENSP00000340817.1:p.Ile374Thr
ENST00000615843.4:c.1217T>C	ENSP00000480893.1:p.Ile406Thr
ENST00000621856.1:c.959T>C	ENSP00000482496.1:p.Ile320Thr
NM_014946.3:c.1217T>C , LRG_714t1:c.1217T>C	NP_055761.2:p.Ile406Thr
NM_199436.1:c.1121T>C	NP_955468.1:p.Ile374Thr
XM_005264516.3:c.1214T>C	XP_005264573.1:p.Ile405Thr
XM_011533067.1:c.1217T>C	XP_011531369.1:p.Ile406Thr
NM_001363823.1:c.1214T>C	NP_001350752.1:p.Ile405Thr
NM_001363875.1:c.1118T>C	NP_001350804.1:p.Ile373Thr
XM_005264516.5:c.1214T>C	XP_005264573.1:p.Ile405Thr
XM_011533067.2:c.1217T>C	XP_011531369.1:p.Ile406Thr
XM_017004778.2:c.1121T>C	XP_016860267.1:p.Ile374Thr
NM_001363823.2:c.1214T>C	NP_001350752.1:p.Ile405Thr
NM_001363875.2:c.1118T>C	NP_001350804.1:p.Ile373Thr
NM_001377959.1:c.1121T>C	NP_001364888.1:p.Ile374Thr
NM_014946.4:c.1217T>C MANE Select	NP_055761.2:p.Ile406Thr
NM_199436.2:c.1121T>C	NP_955468.1:p.Ile374Thr