Canonical Allele Identifier: CA346501340

Gene: SPAST

Linked Data

• ClinVar Variation Id: 430454
• ClinVar RCV Id: RCV000493449
• dbSNP Id: rs1131691977
• MyVariant Identifiers: chr2:g.32352087T>C (hg19) ; chr2:g.32127018T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127018T>C , CM000664.2:g.32127018T>C	GRCh38
NC_000002.11:g.32352087T>C , CM000664.1:g.32352087T>C	GRCh37
NC_000002.10:g.32205591T>C	NCBI36
NG_008730.1:g.68408T>C , LRG_714:g.68408T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*829T>C	ENSP00000515816.1:n.*829T>C
ENST00000315285.9:c.1169T>C MANE Select	ENSP00000320885.3:p.Met390Thr
ENST00000621856.2:c.1166T>C	ENSP00000482496.2:p.Met389Thr
ENST00000642281.1:c.983-9545T>C
ENST00000642455.1:c.1070T>C	ENSP00000493827.1:p.Met357Thr
ENST00000642751.1:c.943T>C
ENST00000642999.1:c.911T>C	ENSP00000496589.1:p.Met304Thr
ENST00000643327.1:c.328T>C
ENST00000643334.1:c.749T>C
ENST00000644408.1:c.1045T>C
ENST00000644954.1:c.815T>C	ENSP00000494312.1:p.Met272Thr
ENST00000645159.1:n.521T>C
ENST00000645550.1:n.382T>C
ENST00000645671.1:c.619T>C
ENST00000645730.1:c.516T>C
ENST00000646082.1:c.815T>C
ENST00000646571.1:c.1073T>C	ENSP00000495015.1:p.Met358Thr
ENST00000647007.1:n.861T>C
ENST00000647133.1:c.674-1390T>C
ENST00000315285.7:c.1169T>C	ENSP00000320885.3:p.Met390Thr
ENST00000345662.5:c.1073T>C	ENSP00000340817.1:p.Met358Thr
ENST00000615843.4:c.1169T>C	ENSP00000480893.1:p.Met390Thr
ENST00000621856.1:c.911T>C	ENSP00000482496.1:p.Met304Thr
NM_014946.3:c.1169T>C , LRG_714t1:c.1169T>C	NP_055761.2:p.Met390Thr
NM_199436.1:c.1073T>C	NP_955468.1:p.Met358Thr
XM_005264516.3:c.1166T>C	XP_005264573.1:p.Met389Thr
XM_011533067.1:c.1169T>C	XP_011531369.1:p.Met390Thr
NM_001363823.1:c.1166T>C	NP_001350752.1:p.Met389Thr
NM_001363875.1:c.1070T>C	NP_001350804.1:p.Met357Thr
XM_005264516.5:c.1166T>C	XP_005264573.1:p.Met389Thr
XM_011533067.2:c.1169T>C	XP_011531369.1:p.Met390Thr
XM_017004778.2:c.1073T>C	XP_016860267.1:p.Met358Thr
NM_001363823.2:c.1166T>C	NP_001350752.1:p.Met389Thr
NM_001363875.2:c.1070T>C	NP_001350804.1:p.Met357Thr
NM_001377959.1:c.1073T>C	NP_001364888.1:p.Met358Thr
NM_014946.4:c.1169T>C MANE Select	NP_055761.2:p.Met390Thr
NM_199436.2:c.1073T>C	NP_955468.1:p.Met358Thr