Canonical Allele Identifier: CA346501239

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32352039C>A (hg19) ; chr2:g.32126970C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126970C>A , CM000664.2:g.32126970C>A	GRCh38
NC_000002.11:g.32352039C>A , CM000664.1:g.32352039C>A	GRCh37
NC_000002.10:g.32205543C>A	NCBI36
NG_008730.1:g.68360C>A , LRG_714:g.68360C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*781C>A	ENSP00000515816.1:n.*781C>A
ENST00000315285.9:c.1121C>A MANE Select	ENSP00000320885.3:p.Pro374His
ENST00000621856.2:c.1118C>A	ENSP00000482496.2:p.Pro373His
ENST00000642281.1:c.983-9593C>A
ENST00000642455.1:c.1022C>A	ENSP00000493827.1:p.Pro341His
ENST00000642751.1:c.895C>A
ENST00000642999.1:c.863C>A	ENSP00000496589.1:p.Pro288His
ENST00000643327.1:c.280C>A
ENST00000643334.1:c.701C>A
ENST00000644408.1:c.997C>A
ENST00000644954.1:c.767C>A	ENSP00000494312.1:p.Pro256His
ENST00000645159.1:n.473C>A
ENST00000645550.1:n.334C>A
ENST00000645671.1:c.571C>A
ENST00000645730.1:c.468C>A
ENST00000646082.1:c.767C>A
ENST00000646571.1:c.1025C>A	ENSP00000495015.1:p.Pro342His
ENST00000647007.1:n.813C>A
ENST00000647133.1:c.674-1438C>A
ENST00000315285.7:c.1121C>A	ENSP00000320885.3:p.Pro374His
ENST00000345662.5:c.1025C>A	ENSP00000340817.1:p.Pro342His
ENST00000615843.4:c.1121C>A	ENSP00000480893.1:p.Pro374His
ENST00000621856.1:c.863C>A	ENSP00000482496.1:p.Pro288His
NM_014946.3:c.1121C>A , LRG_714t1:c.1121C>A	NP_055761.2:p.Pro374His
NM_199436.1:c.1025C>A	NP_955468.1:p.Pro342His
XM_005264516.3:c.1118C>A	XP_005264573.1:p.Pro373His
XM_011533067.1:c.1121C>A	XP_011531369.1:p.Pro374His
NM_001363823.1:c.1118C>A	NP_001350752.1:p.Pro373His
NM_001363875.1:c.1022C>A	NP_001350804.1:p.Pro341His
XM_005264516.5:c.1118C>A	XP_005264573.1:p.Pro373His
XM_011533067.2:c.1121C>A	XP_011531369.1:p.Pro374His
XM_017004778.2:c.1025C>A	XP_016860267.1:p.Pro342His
NM_001363823.2:c.1118C>A	NP_001350752.1:p.Pro373His
NM_001363875.2:c.1022C>A	NP_001350804.1:p.Pro341His
NM_001377959.1:c.1025C>A	NP_001364888.1:p.Pro342His
NM_014946.4:c.1121C>A MANE Select	NP_055761.2:p.Pro374His
NM_199436.2:c.1025C>A	NP_955468.1:p.Pro342His