Canonical Allele Identifier: CA346501288

Gene: SPAST

Linked Data

• ClinVar Variation Id: 2008594
• ClinVar RCV Id: RCV002816629
• MyVariant Identifiers: chr2:g.32352062G>T (hg19) ; chr2:g.32126993G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126993G>T , CM000664.2:g.32126993G>T	GRCh38
NC_000002.11:g.32352062G>T , CM000664.1:g.32352062G>T	GRCh37
NC_000002.10:g.32205566G>T	NCBI36
NG_008730.1:g.68383G>T , LRG_714:g.68383G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*804G>T	ENSP00000515816.1:n.*804G>T
ENST00000315285.9:c.1144G>T MANE Select	ENSP00000320885.3:p.Gly382Cys
ENST00000621856.2:c.1141G>T	ENSP00000482496.2:p.Gly381Cys
ENST00000642281.1:c.983-9570G>T
ENST00000642455.1:c.1045G>T	ENSP00000493827.1:p.Gly349Cys
ENST00000642751.1:c.918G>T
ENST00000642999.1:c.886G>T	ENSP00000496589.1:p.Gly296Cys
ENST00000643327.1:c.303G>T
ENST00000643334.1:c.724G>T
ENST00000644408.1:c.1020G>T
ENST00000644954.1:c.790G>T	ENSP00000494312.1:p.Gly264Cys
ENST00000645159.1:n.496G>T
ENST00000645550.1:n.357G>T
ENST00000645671.1:c.594G>T
ENST00000645730.1:c.491G>T
ENST00000646082.1:c.790G>T
ENST00000646571.1:c.1048G>T	ENSP00000495015.1:p.Gly350Cys
ENST00000647007.1:n.836G>T
ENST00000647133.1:c.674-1415G>T
ENST00000315285.7:c.1144G>T	ENSP00000320885.3:p.Gly382Cys
ENST00000345662.5:c.1048G>T	ENSP00000340817.1:p.Gly350Cys
ENST00000615843.4:c.1144G>T	ENSP00000480893.1:p.Gly382Cys
ENST00000621856.1:c.886G>T	ENSP00000482496.1:p.Gly296Cys
NM_014946.3:c.1144G>T , LRG_714t1:c.1144G>T	NP_055761.2:p.Gly382Cys
NM_199436.1:c.1048G>T	NP_955468.1:p.Gly350Cys
XM_005264516.3:c.1141G>T	XP_005264573.1:p.Gly381Cys
XM_011533067.1:c.1144G>T	XP_011531369.1:p.Gly382Cys
NM_001363823.1:c.1141G>T	NP_001350752.1:p.Gly381Cys
NM_001363875.1:c.1045G>T	NP_001350804.1:p.Gly349Cys
XM_005264516.5:c.1141G>T	XP_005264573.1:p.Gly381Cys
XM_011533067.2:c.1144G>T	XP_011531369.1:p.Gly382Cys
XM_017004778.2:c.1048G>T	XP_016860267.1:p.Gly350Cys
NM_001363823.2:c.1141G>T	NP_001350752.1:p.Gly381Cys
NM_001363875.2:c.1045G>T	NP_001350804.1:p.Gly349Cys
NM_001377959.1:c.1048G>T	NP_001364888.1:p.Gly350Cys
NM_014946.4:c.1144G>T MANE Select	NP_055761.2:p.Gly382Cys
NM_199436.2:c.1048G>T	NP_955468.1:p.Gly350Cys