Canonical Allele Identifier: CA346502545

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1066782
• ClinVar RCV Id: RCV001377877 ; RCV002265027
• dbSNP Id: rs1553318350
• gnomAD v4: 2-32137187-A-G
• MyVariant Identifiers: chr2:g.32362256A>G (hg19) ; chr2:g.32137187A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137187A>G , CM000664.2:g.32137187A>G	GRCh38
NC_000002.11:g.32362256A>G , CM000664.1:g.32362256A>G	GRCh37
NC_000002.10:g.32215760A>G	NCBI36
NG_008730.1:g.78577A>G , LRG_714:g.78577A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1152A>G	ENSP00000515816.1:n.*1152A>G
ENST00000315285.9:c.1492A>G MANE Select	ENSP00000320885.3:p.Arg498Gly
ENST00000621856.2:c.1489A>G	ENSP00000482496.2:p.Arg497Gly
ENST00000642281.1:c.1229A>G
ENST00000642455.1:c.1393A>G	ENSP00000493827.1:p.Arg465Gly
ENST00000642751.1:c.1266A>G
ENST00000642999.1:c.1234A>G	ENSP00000496589.1:p.Arg412Gly
ENST00000643327.1:c.559A>G
ENST00000643334.1:c.1072A>G
ENST00000644408.1:c.1368A>G
ENST00000644954.1:c.1138A>G	ENSP00000494312.1:p.Arg380Gly
ENST00000645159.1:n.2229A>G
ENST00000645671.1:c.942A>G
ENST00000645730.1:c.671A>G
ENST00000646082.1:c.1138A>G
ENST00000646571.1:c.1396A>G	ENSP00000495015.1:p.Arg466Gly
ENST00000647007.1:n.1184A>G
ENST00000647133.1:c.992A>G
ENST00000315285.7:c.1492A>G	ENSP00000320885.3:p.Arg498Gly
ENST00000345662.5:c.1396A>G	ENSP00000340817.1:p.Arg466Gly
ENST00000615843.4:c.1492A>G	ENSP00000480893.1:p.Arg498Gly
ENST00000621856.1:c.1234A>G	ENSP00000482496.1:p.Arg412Gly
NM_014946.3:c.1492A>G , LRG_714t1:c.1492A>G	NP_055761.2:p.Arg498Gly
NM_199436.1:c.1396A>G	NP_955468.1:p.Arg466Gly
XM_005264516.3:c.1489A>G	XP_005264573.1:p.Arg497Gly
XM_011533067.1:c.1492A>G	XP_011531369.1:p.Arg498Gly
NM_001363823.1:c.1489A>G	NP_001350752.1:p.Arg497Gly
NM_001363875.1:c.1393A>G	NP_001350804.1:p.Arg465Gly
XM_005264516.5:c.1489A>G	XP_005264573.1:p.Arg497Gly
XM_011533067.2:c.1492A>G	XP_011531369.1:p.Arg498Gly
XM_017004778.2:c.1396A>G	XP_016860267.1:p.Arg466Gly
NM_001363823.2:c.1489A>G	NP_001350752.1:p.Arg497Gly
NM_001363875.2:c.1393A>G	NP_001350804.1:p.Arg465Gly
NM_001377959.1:c.1396A>G	NP_001364888.1:p.Arg466Gly
NM_014946.4:c.1492A>G MANE Select	NP_055761.2:p.Arg498Gly
NM_199436.2:c.1396A>G	NP_955468.1:p.Arg466Gly