Canonical Allele Identifier: CA346602341

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1442664
• ClinVar RCV Id: RCV001960327 ; RCV003482387
• dbSNP Id: rs1553394608
• gnomAD v4: 2-32064171-G-T
• MyVariant Identifiers: chr2:g.32289240G>T (hg19) ; chr2:g.32064171G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32064171G>T , CM000664.2:g.32064171G>T	GRCh38
NC_000002.11:g.32289240G>T , CM000664.1:g.32289240G>T	GRCh37
NC_000002.10:g.32142744G>T	NCBI36
NG_008730.1:g.5561G>T , LRG_714:g.5561G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.340G>T	ENSP00000515816.1:p.Glu114Ter
ENST00000315285.9:c.340G>T MANE Select	ENSP00000320885.3:p.Glu114Ter
ENST00000621856.2:c.340G>T	ENSP00000482496.2:p.Glu114Ter
ENST00000642281.1:c.224G>T
ENST00000642455.1:c.340G>T	ENSP00000493827.1:p.Glu114Ter
ENST00000642751.1:c.210G>T
ENST00000642999.1:c.82G>T	ENSP00000496589.1:p.Glu28Ter
ENST00000644408.1:c.216G>T
ENST00000644954.1:c.82G>T	ENSP00000494312.1:p.Glu28Ter
ENST00000645400.1:c.181G>T	ENSP00000496306.1:p.Glu61Ter
ENST00000646082.1:c.174G>T
ENST00000646571.1:c.340G>T	ENSP00000495015.1:p.Glu114Ter
ENST00000315285.7:c.340G>T	ENSP00000320885.3:p.Glu114Ter
ENST00000345662.5:c.340G>T	ENSP00000340817.1:p.Glu114Ter
ENST00000615843.4:c.340G>T	ENSP00000480893.1:p.Glu114Ter
ENST00000621856.1:c.82G>T	ENSP00000482496.1:p.Glu28Ter
NM_014946.3:c.340G>T , LRG_714t1:c.340G>T	NP_055761.2:p.Glu114Ter
NM_199436.1:c.340G>T	NP_955468.1:p.Glu114Ter
XM_005264516.3:c.340G>T	XP_005264573.1:p.Glu114Ter
XM_011533067.1:c.340G>T	XP_011531369.1:p.Glu114Ter
NM_001363823.1:c.340G>T	NP_001350752.1:p.Glu114Ter
NM_001363875.1:c.340G>T	NP_001350804.1:p.Glu114Ter
XM_005264516.5:c.340G>T	XP_005264573.1:p.Glu114Ter
XM_011533067.2:c.340G>T	XP_011531369.1:p.Glu114Ter
XM_017004778.2:c.340G>T	XP_016860267.1:p.Glu114Ter
NM_001363823.2:c.340G>T	NP_001350752.1:p.Glu114Ter
NM_001363875.2:c.340G>T	NP_001350804.1:p.Glu114Ter
NM_001377959.1:c.340G>T	NP_001364888.1:p.Glu114Ter
NM_014946.4:c.340G>T MANE Select	NP_055761.2:p.Glu114Ter
NM_199436.2:c.340G>T	NP_955468.1:p.Glu114Ter