Canonical Allele Identifier: CA346501341

Gene: SPAST

Linked Data

• ClinVar Variation Id: 430448
• ClinVar RCV Id: RCV000494283 ; RCV001364718
• dbSNP Id: rs1131691971
• MyVariant Identifiers: chr2:g.32352088G>A (hg19) ; chr2:g.32127019G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127019G>A , CM000664.2:g.32127019G>A	GRCh38
NC_000002.11:g.32352088G>A , CM000664.1:g.32352088G>A	GRCh37
NC_000002.10:g.32205592G>A	NCBI36
NG_008730.1:g.68409G>A , LRG_714:g.68409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*830G>A	ENSP00000515816.1:n.*830G>A
ENST00000315285.9:c.1170G>A MANE Select	ENSP00000320885.3:p.Met390Ile
ENST00000621856.2:c.1167G>A	ENSP00000482496.2:p.Met389Ile
ENST00000642281.1:c.983-9544G>A
ENST00000642455.1:c.1071G>A	ENSP00000493827.1:p.Met357Ile
ENST00000642751.1:c.944G>A
ENST00000642999.1:c.912G>A	ENSP00000496589.1:p.Met304Ile
ENST00000643327.1:c.329G>A
ENST00000643334.1:c.750G>A
ENST00000644408.1:c.1046G>A
ENST00000644954.1:c.816G>A	ENSP00000494312.1:p.Met272Ile
ENST00000645159.1:n.522G>A
ENST00000645550.1:n.383G>A
ENST00000645671.1:c.620G>A
ENST00000645730.1:c.517G>A
ENST00000646082.1:c.816G>A
ENST00000646571.1:c.1074G>A	ENSP00000495015.1:p.Met358Ile
ENST00000647007.1:n.862G>A
ENST00000647133.1:c.674-1389G>A
ENST00000315285.7:c.1170G>A	ENSP00000320885.3:p.Met390Ile
ENST00000345662.5:c.1074G>A	ENSP00000340817.1:p.Met358Ile
ENST00000615843.4:c.1170G>A	ENSP00000480893.1:p.Met390Ile
ENST00000621856.1:c.912G>A	ENSP00000482496.1:p.Met304Ile
NM_014946.3:c.1170G>A , LRG_714t1:c.1170G>A	NP_055761.2:p.Met390Ile
NM_199436.1:c.1074G>A	NP_955468.1:p.Met358Ile
XM_005264516.3:c.1167G>A	XP_005264573.1:p.Met389Ile
XM_011533067.1:c.1170G>A	XP_011531369.1:p.Met390Ile
NM_001363823.1:c.1167G>A	NP_001350752.1:p.Met389Ile
NM_001363875.1:c.1071G>A	NP_001350804.1:p.Met357Ile
XM_005264516.5:c.1167G>A	XP_005264573.1:p.Met389Ile
XM_011533067.2:c.1170G>A	XP_011531369.1:p.Met390Ile
XM_017004778.2:c.1074G>A	XP_016860267.1:p.Met358Ile
NM_001363823.2:c.1167G>A	NP_001350752.1:p.Met389Ile
NM_001363875.2:c.1071G>A	NP_001350804.1:p.Met357Ile
NM_001377959.1:c.1074G>A	NP_001364888.1:p.Met358Ile
NM_014946.4:c.1170G>A MANE Select	NP_055761.2:p.Met390Ile
NM_199436.2:c.1074G>A	NP_955468.1:p.Met358Ile