Canonical Allele Identifier: CA1242477076

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32089596C= , CM000664.2:g.32089596C=	GRCh38
NC_000002.11:g.32314665C= , CM000664.1:g.32314665C=	GRCh37
NC_000002.10:g.32168169C=	NCBI36
NG_008730.1:g.30986C= , LRG_714:g.30986C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*237C=	ENSP00000515816.1:n.*237C=
ENST00000315285.9:c.577C= MANE Select	ENSP00000320885.3:p.Gln193=
ENST00000621856.2:c.574C=	ENSP00000482496.2:p.Gln192=
ENST00000642281.1:c.461C=
ENST00000642455.1:c.574C=	ENSP00000493827.1:p.Gln192=
ENST00000642751.1:c.447C=
ENST00000642999.1:c.319C=	ENSP00000496589.1:p.Gln107=
ENST00000643334.1:c.162C=
ENST00000644408.1:c.453C=
ENST00000644954.1:c.319C=	ENSP00000494312.1:p.Gln107=
ENST00000645400.1:c.533C=	ENSP00000496306.1:n.533C=
ENST00000645671.1:c.37-9200C=
ENST00000646082.1:c.411C=
ENST00000646571.1:c.577C=	ENSP00000495015.1:p.Gln193=
ENST00000647007.1:n.274C=
ENST00000647133.1:c.152C=
ENST00000315285.7:c.577C=	ENSP00000320885.3:p.Gln193=
ENST00000345662.5:c.577C=	ENSP00000340817.1:p.Gln193=
ENST00000615843.4:c.577C=	ENSP00000480893.1:p.Gln193=
ENST00000621856.1:c.319C=	ENSP00000482496.1:p.Gln107=
NM_014946.3:c.577C= , LRG_714t1:c.577C=	NP_055761.2:p.Gln193=
NM_199436.1:c.577C=	NP_955468.1:p.Gln193=
XM_005264516.3:c.574C=	XP_005264573.1:p.Gln192=
XM_011533067.1:c.577C=	XP_011531369.1:p.Gln193=
NM_001363823.1:c.574C=	NP_001350752.1:p.Gln192=
NM_001363875.1:c.574C=	NP_001350804.1:p.Gln192=
XM_005264516.5:c.574C=	XP_005264573.1:p.Gln192=
XM_011533067.2:c.577C=	XP_011531369.1:p.Gln193=
XM_017004778.2:c.577C=	XP_016860267.1:p.Gln193=
NM_001363823.2:c.574C=	NP_001350752.1:p.Gln192=
NM_001363875.2:c.574C=	NP_001350804.1:p.Gln192=
NM_001377959.1:c.577C=	NP_001364888.1:p.Gln193=
NM_014946.4:c.577C= MANE Select	NP_055761.2:p.Gln193=
NM_199436.2:c.577C=	NP_955468.1:p.Gln193=