Canonical Allele Identifier: CA346505761

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32154483A>G , CM000664.2:g.32154483A>G	GRCh38
NC_000002.11:g.32379552A>G , CM000664.1:g.32379552A>G	GRCh37
NC_000002.10:g.32233056A>G	NCBI36
NG_008730.1:g.95873A>G , LRG_714:g.95873A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1838A>G MANE Select	NP_055761.2:p.Asp613Gly
ENST00000315285.9:c.1838A>G MANE Select	ENSP00000320885.3:p.Asp613Gly
NM_001363823.1:c.1835A>G	NP_001350752.1:p.Asp612Gly
NM_001363823.2:c.1835A>G	NP_001350752.1:p.Asp612Gly
NM_001363875.1:c.1739A>G	NP_001350804.1:p.Asp580Gly
NM_001363875.2:c.1739A>G	NP_001350804.1:p.Asp580Gly
NM_001377959.1:c.*111A>G	NP_001364888.1:n.*111A>G
NM_014946.3:c.1838A>G , LRG_714t1:c.1838A>G	NP_055761.2:p.Asp613Gly
NM_199436.1:c.1742A>G	NP_955468.1:p.Asp581Gly
NM_199436.2:c.1742A>G	NP_955468.1:p.Asp581Gly
ENST00000315285.7:c.1838A>G	ENSP00000320885.3:p.Asp613Gly
ENST00000345662.5:c.1742A>G	ENSP00000340817.1:p.Asp581Gly
ENST00000615843.4:c.1838A>G	ENSP00000480893.1:p.Asp613Gly
ENST00000621856.1:c.1580A>G	ENSP00000482496.1:p.Asp527Gly
ENST00000621856.2:c.1835A>G	ENSP00000482496.2:p.Asp612Gly
ENST00000642281.1:c.1575A>G
ENST00000642455.1:c.1739A>G	ENSP00000493827.1:p.Asp580Gly
ENST00000642751.1:c.1541A>G
ENST00000642999.1:c.1580A>G	ENSP00000496589.1:p.Asp527Gly
ENST00000644408.1:c.1737A>G
ENST00000644954.1:c.1484A>G	ENSP00000494312.1:p.Asp495Gly
ENST00000645159.1:n.2575A>G
ENST00000645671.1:c.1217A>G
ENST00000645730.1:c.1017A>G
ENST00000646082.1:c.1484A>G
ENST00000646571.1:c.1742A>G	ENSP00000495015.1:p.Asp581Gly
ENST00000647007.1:n.1530A>G
ENST00000647133.1:c.1338A>G
ENST00000704289.1:c.*1498A>G	ENSP00000515816.1:n.*1498A>G
XM_005264516.3:c.1835A>G	XP_005264573.1:p.Asp612Gly
XM_005264516.5:c.1835A>G	XP_005264573.1:p.Asp612Gly
XM_011533067.2:c.*111A>G	XP_011531369.1:n.*111A>G
XM_017004778.2:c.*111A>G	XP_016860267.1:n.*111A>G