Canonical Allele Identifier: CA346502538

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1312240
• ClinVar RCV Id: RCV001754994
• dbSNP Id: rs867575128
• MyVariant Identifiers: chr2:g.32362251T>G (hg19) ; chr2:g.32137182T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137182T>G , CM000664.2:g.32137182T>G	GRCh38
NC_000002.11:g.32362251T>G , CM000664.1:g.32362251T>G	GRCh37
NC_000002.10:g.32215755T>G	NCBI36
NG_008730.1:g.78572T>G , LRG_714:g.78572T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1147T>G	ENSP00000515816.1:n.*1147T>G
ENST00000315285.9:c.1487T>G MANE Select	ENSP00000320885.3:p.Val496Gly
ENST00000621856.2:c.1484T>G	ENSP00000482496.2:p.Val495Gly
ENST00000642281.1:c.1224T>G
ENST00000642455.1:c.1388T>G	ENSP00000493827.1:p.Val463Gly
ENST00000642751.1:c.1261T>G
ENST00000642999.1:c.1229T>G	ENSP00000496589.1:p.Val410Gly
ENST00000643327.1:c.554T>G
ENST00000643334.1:c.1067T>G
ENST00000644408.1:c.1363T>G
ENST00000644954.1:c.1133T>G	ENSP00000494312.1:p.Val378Gly
ENST00000645159.1:n.2224T>G
ENST00000645671.1:c.937T>G
ENST00000645730.1:c.666T>G
ENST00000646082.1:c.1133T>G
ENST00000646571.1:c.1391T>G	ENSP00000495015.1:p.Val464Gly
ENST00000647007.1:n.1179T>G
ENST00000647133.1:c.987T>G
ENST00000315285.7:c.1487T>G	ENSP00000320885.3:p.Val496Gly
ENST00000345662.5:c.1391T>G	ENSP00000340817.1:p.Val464Gly
ENST00000615843.4:c.1487T>G	ENSP00000480893.1:p.Val496Gly
ENST00000621856.1:c.1229T>G	ENSP00000482496.1:p.Val410Gly
NM_014946.3:c.1487T>G , LRG_714t1:c.1487T>G	NP_055761.2:p.Val496Gly
NM_199436.1:c.1391T>G	NP_955468.1:p.Val464Gly
XM_005264516.3:c.1484T>G	XP_005264573.1:p.Val495Gly
XM_011533067.1:c.1487T>G	XP_011531369.1:p.Val496Gly
NM_001363823.1:c.1484T>G	NP_001350752.1:p.Val495Gly
NM_001363875.1:c.1388T>G	NP_001350804.1:p.Val463Gly
XM_005264516.5:c.1484T>G	XP_005264573.1:p.Val495Gly
XM_011533067.2:c.1487T>G	XP_011531369.1:p.Val496Gly
XM_017004778.2:c.1391T>G	XP_016860267.1:p.Val464Gly
NM_001363823.2:c.1484T>G	NP_001350752.1:p.Val495Gly
NM_001363875.2:c.1388T>G	NP_001350804.1:p.Val463Gly
NM_001377959.1:c.1391T>G	NP_001364888.1:p.Val464Gly
NM_014946.4:c.1487T>G MANE Select	NP_055761.2:p.Val496Gly
NM_199436.2:c.1391T>G	NP_955468.1:p.Val464Gly