Canonical Allele Identifier: CA346498458

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32114701C>G , CM000664.2:g.32114701C>G	GRCh38
NC_000002.11:g.32339770C>G , CM000664.1:g.32339770C>G	GRCh37
NC_000002.10:g.32193274C>G	NCBI36
NG_008730.1:g.56091C>G , LRG_714:g.56091C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.746C>G MANE Select	NP_055761.2:p.Ser249Ter
ENST00000315285.9:c.746C>G MANE Select	ENSP00000320885.3:p.Ser249Ter
NM_001363823.1:c.743C>G	NP_001350752.1:p.Ser248Ter
NM_001363823.2:c.743C>G	NP_001350752.1:p.Ser248Ter
NM_001363875.1:c.647C>G	NP_001350804.1:p.Ser216Ter
NM_001363875.2:c.647C>G	NP_001350804.1:p.Ser216Ter
NM_001377959.1:c.650C>G	NP_001364888.1:p.Ser217Ter
NM_014946.3:c.746C>G , LRG_714t1:c.746C>G	NP_055761.2:p.Ser249Ter
NM_199436.1:c.650C>G	NP_955468.1:p.Ser217Ter
NM_199436.2:c.650C>G	NP_955468.1:p.Ser217Ter
ENST00000315285.7:c.746C>G	ENSP00000320885.3:p.Ser249Ter
ENST00000345662.5:c.650C>G	ENSP00000340817.1:p.Ser217Ter
ENST00000615843.4:c.746C>G	ENSP00000480893.1:p.Ser249Ter
ENST00000621856.1:c.488C>G	ENSP00000482496.1:p.Ser163Ter
ENST00000621856.2:c.743C>G	ENSP00000482496.2:p.Ser248Ter
ENST00000642281.1:c.630C>G
ENST00000642455.1:c.647C>G	ENSP00000493827.1:p.Ser216Ter
ENST00000642751.1:c.520C>G
ENST00000642999.1:c.488C>G	ENSP00000496589.1:p.Ser163Ter
ENST00000643334.1:c.326C>G
ENST00000644408.1:c.622C>G
ENST00000644954.1:c.392C>G	ENSP00000494312.1:p.Ser131Ter
ENST00000645400.1:c.702C>G	ENSP00000496306.1:n.702C>G
ENST00000645671.1:c.196C>G
ENST00000645730.1:c.93C>G
ENST00000646082.1:c.517-1001C>G
ENST00000646571.1:c.650C>G	ENSP00000495015.1:p.Ser217Ter
ENST00000647007.1:n.438C>G
ENST00000647133.1:c.321C>G
ENST00000704289.1:c.*406C>G	ENSP00000515816.1:n.*406C>G
XM_005264516.3:c.743C>G	XP_005264573.1:p.Ser248Ter
XM_005264516.5:c.743C>G	XP_005264573.1:p.Ser248Ter
XM_011533067.1:c.746C>G	XP_011531369.1:p.Ser249Ter
XM_011533067.2:c.746C>G	XP_011531369.1:p.Ser249Ter
XM_017004778.2:c.650C>G	XP_016860267.1:p.Ser217Ter