Canonical Allele Identifier: CA1600860

Gene: SPAST

Linked Data

• dbSNP Id: rs770538057
• ExAC: 2:32361679 A / C
• gnomAD v2: 2-32361679-A-C
• MyVariant Identifiers: chr2:g.32361679A>C (hg19) ; chr2:g.32136610A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136610A>C , CM000664.2:g.32136610A>C	GRCh38
NC_000002.11:g.32361679A>C , CM000664.1:g.32361679A>C	GRCh37
NC_000002.10:g.32215183A>C	NCBI36
NG_008730.1:g.78000A>C , LRG_714:g.78000A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*953A>C	ENSP00000515816.1:n.*953A>C
ENST00000315285.9:c.1293A>C MANE Select	ENSP00000320885.3:p.Arg431=
ENST00000621856.2:c.1290A>C	ENSP00000482496.2:p.Arg430=
ENST00000642281.1:c.1030A>C
ENST00000642455.1:c.1194A>C	ENSP00000493827.1:p.Arg398=
ENST00000642751.1:c.1067A>C
ENST00000642999.1:c.1035A>C	ENSP00000496589.1:p.Arg345=
ENST00000643327.1:c.452A>C
ENST00000643334.1:c.873A>C
ENST00000644408.1:c.1169A>C
ENST00000644954.1:c.939A>C	ENSP00000494312.1:p.Arg313=
ENST00000645159.1:n.2030A>C
ENST00000645671.1:c.743A>C
ENST00000645730.1:c.593-499A>C
ENST00000646082.1:c.939A>C
ENST00000646571.1:c.1197A>C	ENSP00000495015.1:p.Arg399=
ENST00000647007.1:n.985A>C
ENST00000647133.1:c.793A>C
ENST00000315285.7:c.1293A>C	ENSP00000320885.3:p.Arg431=
ENST00000345662.5:c.1197A>C	ENSP00000340817.1:p.Arg399=
ENST00000615843.4:c.1293A>C	ENSP00000480893.1:p.Arg431=
ENST00000621856.1:c.1035A>C	ENSP00000482496.1:p.Arg345=
NM_014946.3:c.1293A>C , LRG_714t1:c.1293A>C	NP_055761.2:p.Arg431=
NM_199436.1:c.1197A>C	NP_955468.1:p.Arg399=
XM_005264516.3:c.1290A>C	XP_005264573.1:p.Arg430=
XM_011533067.1:c.1293A>C	XP_011531369.1:p.Arg431=
NM_001363823.1:c.1290A>C	NP_001350752.1:p.Arg430=
NM_001363875.1:c.1194A>C	NP_001350804.1:p.Arg398=
XM_005264516.5:c.1290A>C	XP_005264573.1:p.Arg430=
XM_011533067.2:c.1293A>C	XP_011531369.1:p.Arg431=
XM_017004778.2:c.1197A>C	XP_016860267.1:p.Arg399=
NM_001363823.2:c.1290A>C	NP_001350752.1:p.Arg430=
NM_001363875.2:c.1194A>C	NP_001350804.1:p.Arg398=
NM_001377959.1:c.1197A>C	NP_001364888.1:p.Arg399=
NM_014946.4:c.1293A>C MANE Select	NP_055761.2:p.Arg431=
NM_199436.2:c.1197A>C	NP_955468.1:p.Arg399=