Canonical Allele Identifier: CA346502211

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1344048
• ClinVar RCV Id: RCV001848151
• dbSNP Id: rs2148753960
• MyVariant Identifiers: chr2:g.32361969G>T (hg19) ; chr2:g.32136900G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136900G>T , CM000664.2:g.32136900G>T	GRCh38
NC_000002.11:g.32361969G>T , CM000664.1:g.32361969G>T	GRCh37
NC_000002.10:g.32215473G>T	NCBI36
NG_008730.1:g.78290G>T , LRG_714:g.78290G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1005G>T	ENSP00000515816.1:n.*1005G>T
ENST00000315285.9:c.1345G>T MANE Select	ENSP00000320885.3:p.Glu449Ter
ENST00000621856.2:c.1342G>T	ENSP00000482496.2:p.Glu448Ter
ENST00000642281.1:c.1082G>T
ENST00000642455.1:c.1246G>T	ENSP00000493827.1:p.Glu416Ter
ENST00000642751.1:c.1119G>T
ENST00000642999.1:c.1087G>T	ENSP00000496589.1:p.Glu363Ter
ENST00000643327.1:c.481-209G>T
ENST00000643334.1:c.925G>T
ENST00000644408.1:c.1221G>T
ENST00000644954.1:c.991G>T	ENSP00000494312.1:p.Glu331Ter
ENST00000645159.1:n.2082G>T
ENST00000645671.1:c.795G>T
ENST00000645730.1:c.593-209G>T
ENST00000646082.1:c.991G>T
ENST00000646571.1:c.1249G>T	ENSP00000495015.1:p.Glu417Ter
ENST00000647007.1:n.1037G>T
ENST00000647133.1:c.845G>T
ENST00000315285.7:c.1345G>T	ENSP00000320885.3:p.Glu449Ter
ENST00000345662.5:c.1249G>T	ENSP00000340817.1:p.Glu417Ter
ENST00000615843.4:c.1345G>T	ENSP00000480893.1:p.Glu449Ter
ENST00000621856.1:c.1087G>T	ENSP00000482496.1:p.Glu363Ter
NM_014946.3:c.1345G>T , LRG_714t1:c.1345G>T	NP_055761.2:p.Glu449Ter
NM_199436.1:c.1249G>T	NP_955468.1:p.Glu417Ter
XM_005264516.3:c.1342G>T	XP_005264573.1:p.Glu448Ter
XM_011533067.1:c.1345G>T	XP_011531369.1:p.Glu449Ter
NM_001363823.1:c.1342G>T	NP_001350752.1:p.Glu448Ter
NM_001363875.1:c.1246G>T	NP_001350804.1:p.Glu416Ter
XM_005264516.5:c.1342G>T	XP_005264573.1:p.Glu448Ter
XM_011533067.2:c.1345G>T	XP_011531369.1:p.Glu449Ter
XM_017004778.2:c.1249G>T	XP_016860267.1:p.Glu417Ter
NM_001363823.2:c.1342G>T	NP_001350752.1:p.Glu448Ter
NM_001363875.2:c.1246G>T	NP_001350804.1:p.Glu416Ter
NM_001377959.1:c.1249G>T	NP_001364888.1:p.Glu417Ter
NM_014946.4:c.1345G>T MANE Select	NP_055761.2:p.Glu449Ter
NM_199436.2:c.1249G>T	NP_955468.1:p.Glu417Ter