Canonical Allele Identifier: CA346502836
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 864060
ClinVar RCV Id: RCV001071158
dbSNP Id: rs1679732057

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32141909T>G , CM000664.2:g.32141909T>G GRCh38
NC_000002.11:g.32366978T>G , CM000664.1:g.32366978T>G GRCh37
NC_000002.10:g.32220482T>G NCBI36
NG_008730.1:g.83299T>G , LRG_714:g.83299T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.*1159T>G ENSP00000515816.1:n.*1159T>G
ENST00000315285.9:c.1499T>G MANE Select ENSP00000320885.3:p.Phe500Cys
ENST00000621856.2:c.1496T>G ENSP00000482496.2:p.Phe499Cys
ENST00000642281.1:c.1236T>G
ENST00000642455.1:c.1400T>G ENSP00000493827.1:p.Phe467Cys
ENST00000642751.1:c.1273T>G
ENST00000642999.1:c.1241T>G ENSP00000496589.1:p.Phe414Cys
ENST00000643327.1:c.566T>G
ENST00000643334.1:c.1079T>G
ENST00000644408.1:c.1375T>G
ENST00000644954.1:c.1145T>G ENSP00000494312.1:p.Phe382Cys
ENST00000645159.1:n.2236T>G
ENST00000645671.1:c.949T>G
ENST00000645730.1:c.678T>G
ENST00000646082.1:c.1145T>G
ENST00000646571.1:c.1403T>G ENSP00000495015.1:p.Phe468Cys
ENST00000647007.1:n.1191T>G
ENST00000647133.1:c.999T>G
ENST00000315285.7:c.1499T>G ENSP00000320885.3:p.Phe500Cys
ENST00000345662.5:c.1403T>G ENSP00000340817.1:p.Phe468Cys
ENST00000615843.4:c.1499T>G ENSP00000480893.1:p.Phe500Cys
ENST00000621856.1:c.1241T>G ENSP00000482496.1:p.Phe414Cys
NM_014946.3:c.1499T>G , LRG_714t1:c.1499T>G NP_055761.2:p.Phe500Cys
NM_199436.1:c.1403T>G NP_955468.1:p.Phe468Cys
XM_005264516.3:c.1496T>G XP_005264573.1:p.Phe499Cys
XM_011533067.1:c.1499T>G XP_011531369.1:p.Phe500Cys
NM_001363823.1:c.1496T>G NP_001350752.1:p.Phe499Cys
NM_001363875.1:c.1400T>G NP_001350804.1:p.Phe467Cys
XM_005264516.5:c.1496T>G XP_005264573.1:p.Phe499Cys
XM_011533067.2:c.1499T>G XP_011531369.1:p.Phe500Cys
XM_017004778.2:c.1403T>G XP_016860267.1:p.Phe468Cys
NM_001363823.2:c.1496T>G NP_001350752.1:p.Phe499Cys
NM_001363875.2:c.1400T>G NP_001350804.1:p.Phe467Cys
NM_001377959.1:c.1403T>G NP_001364888.1:p.Phe468Cys
NM_014946.4:c.1499T>G MANE Select NP_055761.2:p.Phe500Cys
NM_199436.2:c.1403T>G NP_955468.1:p.Phe468Cys