Canonical Allele Identifier: CA346499672

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32116154A>C , CM000664.2:g.32116154A>C	GRCh38
NC_000002.11:g.32341223A>C , CM000664.1:g.32341223A>C	GRCh37
NC_000002.10:g.32194727A>C	NCBI36
NG_008730.1:g.57544A>C , LRG_714:g.57544A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1040A>C MANE Select	NP_055761.2:p.Gln347Pro
ENST00000315285.9:c.1040A>C MANE Select	ENSP00000320885.3:p.Gln347Pro
NM_001363823.1:c.1037A>C	NP_001350752.1:p.Gln346Pro
NM_001363823.2:c.1037A>C	NP_001350752.1:p.Gln346Pro
NM_001363875.1:c.941A>C	NP_001350804.1:p.Gln314Pro
NM_001363875.2:c.941A>C	NP_001350804.1:p.Gln314Pro
NM_001377959.1:c.944A>C	NP_001364888.1:p.Gln315Pro
NM_014946.3:c.1040A>C , LRG_714t1:c.1040A>C	NP_055761.2:p.Gln347Pro
NM_199436.1:c.944A>C	NP_955468.1:p.Gln315Pro
NM_199436.2:c.944A>C	NP_955468.1:p.Gln315Pro
ENST00000315285.7:c.1040A>C	ENSP00000320885.3:p.Gln347Pro
ENST00000345662.5:c.944A>C	ENSP00000340817.1:p.Gln315Pro
ENST00000615843.4:c.1040A>C	ENSP00000480893.1:p.Gln347Pro
ENST00000621856.1:c.782A>C	ENSP00000482496.1:p.Gln261Pro
ENST00000621856.2:c.1037A>C	ENSP00000482496.2:p.Gln346Pro
ENST00000642281.1:c.924A>C
ENST00000642455.1:c.941A>C	ENSP00000493827.1:p.Gln314Pro
ENST00000642751.1:c.814A>C
ENST00000642999.1:c.782A>C	ENSP00000496589.1:p.Gln261Pro
ENST00000643327.1:c.199A>C
ENST00000643334.1:c.620A>C
ENST00000644408.1:c.916A>C
ENST00000644954.1:c.686A>C	ENSP00000494312.1:p.Gln229Pro
ENST00000645671.1:c.490A>C
ENST00000645730.1:c.387A>C
ENST00000646082.1:c.686A>C
ENST00000646571.1:c.944A>C	ENSP00000495015.1:p.Gln315Pro
ENST00000647007.1:n.732A>C
ENST00000647133.1:c.615A>C
ENST00000704289.1:c.*700A>C	ENSP00000515816.1:n.*700A>C
XM_005264516.3:c.1037A>C	XP_005264573.1:p.Gln346Pro
XM_005264516.5:c.1037A>C	XP_005264573.1:p.Gln346Pro
XM_011533067.1:c.1040A>C	XP_011531369.1:p.Gln347Pro
XM_011533067.2:c.1040A>C	XP_011531369.1:p.Gln347Pro
XM_017004778.2:c.944A>C	XP_016860267.1:p.Gln315Pro