Canonical Allele Identifier: CA1242477045

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32089523T= , CM000664.2:g.32089523T=	GRCh38
NC_000002.11:g.32314592T= , CM000664.1:g.32314592T=	GRCh37
NC_000002.10:g.32168096T=	NCBI36
NG_008730.1:g.30913T= , LRG_714:g.30913T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*164T=	ENSP00000515816.1:n.*164T=
ENST00000315285.9:c.504T= MANE Select	ENSP00000320885.3:p.Gly168=
ENST00000621856.2:c.501T=	ENSP00000482496.2:p.Gly167=
ENST00000642281.1:c.388T=
ENST00000642455.1:c.501T=	ENSP00000493827.1:p.Gly167=
ENST00000642751.1:c.374T=
ENST00000642999.1:c.246T=	ENSP00000496589.1:p.Gly82=
ENST00000643334.1:c.89T=
ENST00000644408.1:c.380T=
ENST00000644954.1:c.246T=	ENSP00000494312.1:p.Gly82=
ENST00000645400.1:c.460T=	ENSP00000496306.1:n.460T=
ENST00000645671.1:c.37-9273T=
ENST00000646082.1:c.338T=
ENST00000646571.1:c.504T=	ENSP00000495015.1:p.Gly168=
ENST00000647007.1:n.201T=
ENST00000647133.1:c.79T=
ENST00000315285.7:c.504T=	ENSP00000320885.3:p.Gly168=
ENST00000345662.5:c.504T=	ENSP00000340817.1:p.Gly168=
ENST00000615843.4:c.504T=	ENSP00000480893.1:p.Gly168=
ENST00000621856.1:c.246T=	ENSP00000482496.1:p.Gly82=
NM_014946.3:c.504T= , LRG_714t1:c.504T=	NP_055761.2:p.Gly168=
NM_199436.1:c.504T=	NP_955468.1:p.Gly168=
XM_005264516.3:c.501T=	XP_005264573.1:p.Gly167=
XM_011533067.1:c.504T=	XP_011531369.1:p.Gly168=
NM_001363823.1:c.501T=	NP_001350752.1:p.Gly167=
NM_001363875.1:c.501T=	NP_001350804.1:p.Gly167=
XM_005264516.5:c.501T=	XP_005264573.1:p.Gly167=
XM_011533067.2:c.504T=	XP_011531369.1:p.Gly168=
XM_017004778.2:c.504T=	XP_016860267.1:p.Gly168=
NM_001363823.2:c.501T=	NP_001350752.1:p.Gly167=
NM_001363875.2:c.501T=	NP_001350804.1:p.Gly167=
NM_001377959.1:c.504T=	NP_001364888.1:p.Gly168=
NM_014946.4:c.504T= MANE Select	NP_055761.2:p.Gly168=
NM_199436.2:c.504T=	NP_955468.1:p.Gly168=