Canonical Allele Identifier: CA346501437
Gene: SPAST HGNC NCBI

Linked Data

dbSNP Id: rs1553317030

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32128443C>G , CM000664.2:g.32128443C>G GRCh38
NC_000002.11:g.32353512C>G , CM000664.1:g.32353512C>G GRCh37
NC_000002.10:g.32207016C>G NCBI36
NG_008730.1:g.69833C>G , LRG_714:g.69833C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*869C>G ENSP00000515816.1:n.*869C>G
ENST00000315285.9:c.1209C>G MANE Select ENSP00000320885.3:p.Phe403Leu
ENST00000621856.2:c.1206C>G ENSP00000482496.2:p.Phe402Leu
ENST00000642281.1:c.983-8120C>G
ENST00000642455.1:c.1110C>G ENSP00000493827.1:p.Phe370Leu
ENST00000642751.1:c.983C>G
ENST00000642999.1:c.951C>G ENSP00000496589.1:p.Phe317Leu
ENST00000643327.1:c.368C>G
ENST00000643334.1:c.789C>G
ENST00000644408.1:c.1085C>G
ENST00000644954.1:c.855C>G ENSP00000494312.1:p.Phe285Leu
ENST00000645159.1:n.1946C>G
ENST00000645550.1:n.422C>G
ENST00000645671.1:c.659C>G
ENST00000645730.1:c.556C>G
ENST00000646082.1:c.855C>G
ENST00000646571.1:c.1113C>G ENSP00000495015.1:p.Phe371Leu
ENST00000647007.1:n.901C>G
ENST00000647133.1:c.709C>G
ENST00000315285.7:c.1209C>G ENSP00000320885.3:p.Phe403Leu
ENST00000345662.5:c.1113C>G ENSP00000340817.1:p.Phe371Leu
ENST00000615843.4:c.1209C>G ENSP00000480893.1:p.Phe403Leu
ENST00000621856.1:c.951C>G ENSP00000482496.1:p.Phe317Leu
NM_014946.3:c.1209C>G , LRG_714t1:c.1209C>G NP_055761.2:p.Phe403Leu
NM_199436.1:c.1113C>G NP_955468.1:p.Phe371Leu
XM_005264516.3:c.1206C>G XP_005264573.1:p.Phe402Leu
XM_011533067.1:c.1209C>G XP_011531369.1:p.Phe403Leu
NM_001363823.1:c.1206C>G NP_001350752.1:p.Phe402Leu
NM_001363875.1:c.1110C>G NP_001350804.1:p.Phe370Leu
XM_005264516.5:c.1206C>G XP_005264573.1:p.Phe402Leu
XM_011533067.2:c.1209C>G XP_011531369.1:p.Phe403Leu
XM_017004778.2:c.1113C>G XP_016860267.1:p.Phe371Leu
NM_001363823.2:c.1206C>G NP_001350752.1:p.Phe402Leu
NM_001363875.2:c.1110C>G NP_001350804.1:p.Phe370Leu
NM_001377959.1:c.1113C>G NP_001364888.1:p.Phe371Leu
NM_014946.4:c.1209C>G MANE Select NP_055761.2:p.Phe403Leu
NM_199436.2:c.1113C>G NP_955468.1:p.Phe371Leu