Canonical Allele Identifier: CA16610968

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32116163C>T , CM000664.2:g.32116163C>T	GRCh38
NC_000002.11:g.32341232C>T , CM000664.1:g.32341232C>T	GRCh37
NC_000002.10:g.32194736C>T	NCBI36
NG_008730.1:g.57553C>T , LRG_714:g.57553C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1049C>T MANE Select	NP_055761.2:p.Ala350Val
ENST00000315285.9:c.1049C>T MANE Select	ENSP00000320885.3:p.Ala350Val
NM_001363823.1:c.1046C>T	NP_001350752.1:p.Ala349Val
NM_001363823.2:c.1046C>T	NP_001350752.1:p.Ala349Val
NM_001363875.1:c.950C>T	NP_001350804.1:p.Ala317Val
NM_001363875.2:c.950C>T	NP_001350804.1:p.Ala317Val
NM_001377959.1:c.953C>T	NP_001364888.1:p.Ala318Val
NM_014946.3:c.1049C>T , LRG_714t1:c.1049C>T	NP_055761.2:p.Ala350Val
NM_199436.1:c.953C>T	NP_955468.1:p.Ala318Val
NM_199436.2:c.953C>T	NP_955468.1:p.Ala318Val
ENST00000315285.7:c.1049C>T	ENSP00000320885.3:p.Ala350Val
ENST00000345662.5:c.953C>T	ENSP00000340817.1:p.Ala318Val
ENST00000615843.4:c.1049C>T	ENSP00000480893.1:p.Ala350Val
ENST00000621856.1:c.791C>T	ENSP00000482496.1:p.Ala264Val
ENST00000621856.2:c.1046C>T	ENSP00000482496.2:p.Ala349Val
ENST00000642281.1:c.933C>T
ENST00000642455.1:c.950C>T	ENSP00000493827.1:p.Ala317Val
ENST00000642751.1:c.823C>T
ENST00000642999.1:c.791C>T	ENSP00000496589.1:p.Ala264Val
ENST00000643327.1:c.208C>T
ENST00000643334.1:c.629C>T
ENST00000644408.1:c.925C>T
ENST00000644954.1:c.695C>T	ENSP00000494312.1:p.Ala232Val
ENST00000645671.1:c.499C>T
ENST00000645730.1:c.396C>T
ENST00000646082.1:c.695C>T
ENST00000646571.1:c.953C>T	ENSP00000495015.1:p.Ala318Val
ENST00000647007.1:n.741C>T
ENST00000647133.1:c.624C>T
ENST00000704289.1:c.*709C>T	ENSP00000515816.1:n.*709C>T
XM_005264516.3:c.1046C>T	XP_005264573.1:p.Ala349Val
XM_005264516.5:c.1046C>T	XP_005264573.1:p.Ala349Val
XM_011533067.1:c.1049C>T	XP_011531369.1:p.Ala350Val
XM_011533067.2:c.1049C>T	XP_011531369.1:p.Ala350Val
XM_017004778.2:c.953C>T	XP_016860267.1:p.Ala318Val