Canonical Allele Identifier: CA1600735

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32115709C>T , CM000664.2:g.32115709C>T	GRCh38
NC_000002.11:g.32340778C>T , CM000664.1:g.32340778C>T	GRCh37
NC_000002.10:g.32194282C>T	NCBI36
NG_008730.1:g.57099C>T , LRG_714:g.57099C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.878C>T MANE Select	NP_055761.2:p.Pro293Leu
ENST00000315285.9:c.878C>T MANE Select	ENSP00000320885.3:p.Pro293Leu
NM_001363823.1:c.875C>T	NP_001350752.1:p.Pro292Leu
NM_001363823.2:c.875C>T	NP_001350752.1:p.Pro292Leu
NM_001363875.1:c.779C>T	NP_001350804.1:p.Pro260Leu
NM_001363875.2:c.779C>T	NP_001350804.1:p.Pro260Leu
NM_001377959.1:c.782C>T	NP_001364888.1:p.Pro261Leu
NM_014946.3:c.878C>T , LRG_714t1:c.878C>T	NP_055761.2:p.Pro293Leu
NM_199436.1:c.782C>T	NP_955468.1:p.Pro261Leu
NM_199436.2:c.782C>T	NP_955468.1:p.Pro261Leu
ENST00000315285.7:c.878C>T	ENSP00000320885.3:p.Pro293Leu
ENST00000345662.5:c.782C>T	ENSP00000340817.1:p.Pro261Leu
ENST00000615843.4:c.878C>T	ENSP00000480893.1:p.Pro293Leu
ENST00000621856.1:c.620C>T	ENSP00000482496.1:p.Pro207Leu
ENST00000621856.2:c.875C>T	ENSP00000482496.2:p.Pro292Leu
ENST00000642281.1:c.762C>T
ENST00000642455.1:c.779C>T	ENSP00000493827.1:p.Pro260Leu
ENST00000642751.1:c.652C>T
ENST00000642999.1:c.620C>T	ENSP00000496589.1:p.Pro207Leu
ENST00000643327.1:c.37C>T
ENST00000643334.1:c.458C>T
ENST00000644408.1:c.754C>T
ENST00000644954.1:c.524C>T	ENSP00000494312.1:p.Pro175Leu
ENST00000645671.1:c.328C>T
ENST00000645730.1:c.225C>T
ENST00000646082.1:c.524C>T
ENST00000646571.1:c.782C>T	ENSP00000495015.1:p.Pro261Leu
ENST00000647007.1:n.570C>T
ENST00000647133.1:c.453C>T
ENST00000704289.1:c.*538C>T	ENSP00000515816.1:n.*538C>T
XM_005264516.3:c.875C>T	XP_005264573.1:p.Pro292Leu
XM_005264516.5:c.875C>T	XP_005264573.1:p.Pro292Leu
XM_011533067.1:c.878C>T	XP_011531369.1:p.Pro293Leu
XM_011533067.2:c.878C>T	XP_011531369.1:p.Pro293Leu
XM_017004778.2:c.782C>T	XP_016860267.1:p.Pro261Leu