Canonical Allele Identifier: CA346501861

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32361644G>T (hg19) ; chr2:g.32136575G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136575G>T , CM000664.2:g.32136575G>T	GRCh38
NC_000002.11:g.32361644G>T , CM000664.1:g.32361644G>T	GRCh37
NC_000002.10:g.32215148G>T	NCBI36
NG_008730.1:g.77965G>T , LRG_714:g.77965G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*918G>T	ENSP00000515816.1:n.*918G>T
ENST00000315285.9:c.1258G>T MANE Select	ENSP00000320885.3:p.Glu420Ter
ENST00000621856.2:c.1255G>T	ENSP00000482496.2:p.Glu419Ter
ENST00000642281.1:c.995G>T
ENST00000642455.1:c.1159G>T	ENSP00000493827.1:p.Glu387Ter
ENST00000642751.1:c.1032G>T
ENST00000642999.1:c.1000G>T	ENSP00000496589.1:p.Glu334Ter
ENST00000643327.1:c.417G>T
ENST00000643334.1:c.838G>T
ENST00000644408.1:c.1134G>T
ENST00000644954.1:c.904G>T	ENSP00000494312.1:p.Glu302Ter
ENST00000645159.1:n.1995G>T
ENST00000645671.1:c.708G>T
ENST00000645730.1:c.593-534G>T
ENST00000646082.1:c.904G>T
ENST00000646571.1:c.1162G>T	ENSP00000495015.1:p.Glu388Ter
ENST00000647007.1:n.950G>T
ENST00000647133.1:c.758G>T
ENST00000315285.7:c.1258G>T	ENSP00000320885.3:p.Glu420Ter
ENST00000345662.5:c.1162G>T	ENSP00000340817.1:p.Glu388Ter
ENST00000615843.4:c.1258G>T	ENSP00000480893.1:p.Glu420Ter
ENST00000621856.1:c.1000G>T	ENSP00000482496.1:p.Glu334Ter
NM_014946.3:c.1258G>T , LRG_714t1:c.1258G>T	NP_055761.2:p.Glu420Ter
NM_199436.1:c.1162G>T	NP_955468.1:p.Glu388Ter
XM_005264516.3:c.1255G>T	XP_005264573.1:p.Glu419Ter
XM_011533067.1:c.1258G>T	XP_011531369.1:p.Glu420Ter
NM_001363823.1:c.1255G>T	NP_001350752.1:p.Glu419Ter
NM_001363875.1:c.1159G>T	NP_001350804.1:p.Glu387Ter
XM_005264516.5:c.1255G>T	XP_005264573.1:p.Glu419Ter
XM_011533067.2:c.1258G>T	XP_011531369.1:p.Glu420Ter
XM_017004778.2:c.1162G>T	XP_016860267.1:p.Glu388Ter
NM_001363823.2:c.1255G>T	NP_001350752.1:p.Glu419Ter
NM_001363875.2:c.1159G>T	NP_001350804.1:p.Glu387Ter
NM_001377959.1:c.1162G>T	NP_001364888.1:p.Glu388Ter
NM_014946.4:c.1258G>T MANE Select	NP_055761.2:p.Glu420Ter
NM_199436.2:c.1162G>T	NP_955468.1:p.Glu388Ter