Canonical Allele Identifier: CA346502032
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 1693295
ClinVar RCV Id: RCV002260563
dbSNP Id: rs2148753664

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32136585T>G , CM000664.2:g.32136585T>G GRCh38
NC_000002.11:g.32361654T>G , CM000664.1:g.32361654T>G GRCh37
NC_000002.10:g.32215158T>G NCBI36
NG_008730.1:g.77975T>G , LRG_714:g.77975T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*928T>G ENSP00000515816.1:n.*928T>G
ENST00000315285.9:c.1268T>G MANE Select ENSP00000320885.3:p.Val423Gly
ENST00000621856.2:c.1265T>G ENSP00000482496.2:p.Val422Gly
ENST00000642281.1:c.1005T>G
ENST00000642455.1:c.1169T>G ENSP00000493827.1:p.Val390Gly
ENST00000642751.1:c.1042T>G
ENST00000642999.1:c.1010T>G ENSP00000496589.1:p.Val337Gly
ENST00000643327.1:c.427T>G
ENST00000643334.1:c.848T>G
ENST00000644408.1:c.1144T>G
ENST00000644954.1:c.914T>G ENSP00000494312.1:p.Val305Gly
ENST00000645159.1:n.2005T>G
ENST00000645671.1:c.718T>G
ENST00000645730.1:c.593-524T>G
ENST00000646082.1:c.914T>G
ENST00000646571.1:c.1172T>G ENSP00000495015.1:p.Val391Gly
ENST00000647007.1:n.960T>G
ENST00000647133.1:c.768T>G
ENST00000315285.7:c.1268T>G ENSP00000320885.3:p.Val423Gly
ENST00000345662.5:c.1172T>G ENSP00000340817.1:p.Val391Gly
ENST00000615843.4:c.1268T>G ENSP00000480893.1:p.Val423Gly
ENST00000621856.1:c.1010T>G ENSP00000482496.1:p.Val337Gly
NM_014946.3:c.1268T>G , LRG_714t1:c.1268T>G NP_055761.2:p.Val423Gly
NM_199436.1:c.1172T>G NP_955468.1:p.Val391Gly
XM_005264516.3:c.1265T>G XP_005264573.1:p.Val422Gly
XM_011533067.1:c.1268T>G XP_011531369.1:p.Val423Gly
NM_001363823.1:c.1265T>G NP_001350752.1:p.Val422Gly
NM_001363875.1:c.1169T>G NP_001350804.1:p.Val390Gly
XM_005264516.5:c.1265T>G XP_005264573.1:p.Val422Gly
XM_011533067.2:c.1268T>G XP_011531369.1:p.Val423Gly
XM_017004778.2:c.1172T>G XP_016860267.1:p.Val391Gly
NM_001363823.2:c.1265T>G NP_001350752.1:p.Val422Gly
NM_001363875.2:c.1169T>G NP_001350804.1:p.Val390Gly
NM_001377959.1:c.1172T>G NP_001364888.1:p.Val391Gly
NM_014946.4:c.1268T>G MANE Select NP_055761.2:p.Val423Gly
NM_199436.2:c.1172T>G NP_955468.1:p.Val391Gly