Canonical Allele Identifier: CA425449202
Gene: SPAST HGNC NCBI

Linked Data

gnomAD v4: 2-32137153-T-C
MyVariant Identifiers: chr2:g.32362222T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32137153T>C , CM000664.2:g.32137153T>C GRCh38
NC_000002.11:g.32362222T>C , CM000664.1:g.32362222T>C GRCh37
NC_000002.10:g.32215726T>C NCBI36
NG_008730.1:g.78543T>C , LRG_714:g.78543T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*1118T>C ENSP00000515816.1:n.*1118T>C
ENST00000315285.9:c.1458T>C MANE Select ENSP00000320885.3:p.Thr486=
ENST00000621856.2:c.1455T>C ENSP00000482496.2:p.Thr485=
ENST00000642281.1:c.1195T>C
ENST00000642455.1:c.1359T>C ENSP00000493827.1:p.Thr453=
ENST00000642751.1:c.1232T>C
ENST00000642999.1:c.1200T>C ENSP00000496589.1:p.Thr400=
ENST00000643327.1:c.525T>C
ENST00000643334.1:c.1038T>C
ENST00000644408.1:c.1334T>C
ENST00000644954.1:c.1104T>C ENSP00000494312.1:p.Thr368=
ENST00000645159.1:n.2195T>C
ENST00000645671.1:c.908T>C
ENST00000645730.1:c.637T>C
ENST00000646082.1:c.1104T>C
ENST00000646571.1:c.1362T>C ENSP00000495015.1:p.Thr454=
ENST00000647007.1:n.1150T>C
ENST00000647133.1:c.958T>C
ENST00000315285.7:c.1458T>C ENSP00000320885.3:p.Thr486=
ENST00000345662.5:c.1362T>C ENSP00000340817.1:p.Thr454=
ENST00000615843.4:c.1458T>C ENSP00000480893.1:p.Thr486=
ENST00000621856.1:c.1200T>C ENSP00000482496.1:p.Thr400=
NM_014946.3:c.1458T>C , LRG_714t1:c.1458T>C NP_055761.2:p.Thr486=
NM_199436.1:c.1362T>C NP_955468.1:p.Thr454=
XM_005264516.3:c.1455T>C XP_005264573.1:p.Thr485=
XM_011533067.1:c.1458T>C XP_011531369.1:p.Thr486=
NM_001363823.1:c.1455T>C NP_001350752.1:p.Thr485=
NM_001363875.1:c.1359T>C NP_001350804.1:p.Thr453=
XM_005264516.5:c.1455T>C XP_005264573.1:p.Thr485=
XM_011533067.2:c.1458T>C XP_011531369.1:p.Thr486=
XM_017004778.2:c.1362T>C XP_016860267.1:p.Thr454=
NM_001363823.2:c.1455T>C NP_001350752.1:p.Thr485=
NM_001363875.2:c.1359T>C NP_001350804.1:p.Thr453=
NM_001377959.1:c.1362T>C NP_001364888.1:p.Thr454=
NM_014946.4:c.1458T>C MANE Select NP_055761.2:p.Thr486=
NM_199436.2:c.1362T>C NP_955468.1:p.Thr454=