Canonical Allele Identifier: CA346502279

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136929T>A , CM000664.2:g.32136929T>A	GRCh38
NC_000002.11:g.32361998T>A , CM000664.1:g.32361998T>A	GRCh37
NC_000002.10:g.32215502T>A	NCBI36
NG_008730.1:g.78319T>A , LRG_714:g.78319T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1374T>A MANE Select	NP_055761.2:p.Ser458Arg
ENST00000315285.9:c.1374T>A MANE Select	ENSP00000320885.3:p.Ser458Arg
NM_001363823.1:c.1371T>A	NP_001350752.1:p.Ser457Arg
NM_001363823.2:c.1371T>A	NP_001350752.1:p.Ser457Arg
NM_001363875.1:c.1275T>A	NP_001350804.1:p.Ser425Arg
NM_001363875.2:c.1275T>A	NP_001350804.1:p.Ser425Arg
NM_001377959.1:c.1278T>A	NP_001364888.1:p.Ser426Arg
NM_014946.3:c.1374T>A , LRG_714t1:c.1374T>A	NP_055761.2:p.Ser458Arg
NM_199436.1:c.1278T>A	NP_955468.1:p.Ser426Arg
NM_199436.2:c.1278T>A	NP_955468.1:p.Ser426Arg
ENST00000315285.7:c.1374T>A	ENSP00000320885.3:p.Ser458Arg
ENST00000345662.5:c.1278T>A	ENSP00000340817.1:p.Ser426Arg
ENST00000615843.4:c.1374T>A	ENSP00000480893.1:p.Ser458Arg
ENST00000621856.1:c.1116T>A	ENSP00000482496.1:p.Ser372Arg
ENST00000621856.2:c.1371T>A	ENSP00000482496.2:p.Ser457Arg
ENST00000642281.1:c.1111T>A
ENST00000642455.1:c.1275T>A	ENSP00000493827.1:p.Ser425Arg
ENST00000642751.1:c.1148T>A
ENST00000642999.1:c.1116T>A	ENSP00000496589.1:p.Ser372Arg
ENST00000643327.1:c.481-180T>A
ENST00000643334.1:c.954T>A
ENST00000644408.1:c.1250T>A
ENST00000644954.1:c.1020T>A	ENSP00000494312.1:p.Ser340Arg
ENST00000645159.1:n.2111T>A
ENST00000645671.1:c.824T>A
ENST00000645730.1:c.593-180T>A
ENST00000646082.1:c.1020T>A
ENST00000646571.1:c.1278T>A	ENSP00000495015.1:p.Ser426Arg
ENST00000647007.1:n.1066T>A
ENST00000647133.1:c.874T>A
ENST00000704289.1:c.*1034T>A	ENSP00000515816.1:n.*1034T>A
XM_005264516.3:c.1371T>A	XP_005264573.1:p.Ser457Arg
XM_005264516.5:c.1371T>A	XP_005264573.1:p.Ser457Arg
XM_011533067.1:c.1374T>A	XP_011531369.1:p.Ser458Arg
XM_011533067.2:c.1374T>A	XP_011531369.1:p.Ser458Arg
XM_017004778.2:c.1278T>A	XP_016860267.1:p.Ser426Arg