Canonical Allele Identifier: CA346501222
Gene: SPAST HGNC NCBI

Linked Data

dbSNP Id: rs1553316807
gnomAD v4: 2-32126963-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32126963A>G , CM000664.2:g.32126963A>G GRCh38
NC_000002.11:g.32352032A>G , CM000664.1:g.32352032A>G GRCh37
NC_000002.10:g.32205536A>G NCBI36
NG_008730.1:g.68353A>G , LRG_714:g.68353A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*774A>G ENSP00000515816.1:n.*774A>G
ENST00000315285.9:c.1114A>G MANE Select ENSP00000320885.3:p.Arg372Gly
ENST00000621856.2:c.1111A>G ENSP00000482496.2:p.Arg371Gly
ENST00000642281.1:c.983-9600A>G
ENST00000642455.1:c.1015A>G ENSP00000493827.1:p.Arg339Gly
ENST00000642751.1:c.888A>G
ENST00000642999.1:c.856A>G ENSP00000496589.1:p.Arg286Gly
ENST00000643327.1:c.273A>G
ENST00000643334.1:c.694A>G
ENST00000644408.1:c.990A>G
ENST00000644954.1:c.760A>G ENSP00000494312.1:p.Arg254Gly
ENST00000645159.1:n.466A>G
ENST00000645550.1:n.327A>G
ENST00000645671.1:c.564A>G
ENST00000645730.1:c.461A>G
ENST00000646082.1:c.760A>G
ENST00000646571.1:c.1018A>G ENSP00000495015.1:p.Arg340Gly
ENST00000647007.1:n.806A>G
ENST00000647133.1:c.674-1445A>G
ENST00000315285.7:c.1114A>G ENSP00000320885.3:p.Arg372Gly
ENST00000345662.5:c.1018A>G ENSP00000340817.1:p.Arg340Gly
ENST00000615843.4:c.1114A>G ENSP00000480893.1:p.Arg372Gly
ENST00000621856.1:c.856A>G ENSP00000482496.1:p.Arg286Gly
NM_014946.3:c.1114A>G , LRG_714t1:c.1114A>G NP_055761.2:p.Arg372Gly
NM_199436.1:c.1018A>G NP_955468.1:p.Arg340Gly
XM_005264516.3:c.1111A>G XP_005264573.1:p.Arg371Gly
XM_011533067.1:c.1114A>G XP_011531369.1:p.Arg372Gly
NM_001363823.1:c.1111A>G NP_001350752.1:p.Arg371Gly
NM_001363875.1:c.1015A>G NP_001350804.1:p.Arg339Gly
XM_005264516.5:c.1111A>G XP_005264573.1:p.Arg371Gly
XM_011533067.2:c.1114A>G XP_011531369.1:p.Arg372Gly
XM_017004778.2:c.1018A>G XP_016860267.1:p.Arg340Gly
NM_001363823.2:c.1111A>G NP_001350752.1:p.Arg371Gly
NM_001363875.2:c.1015A>G NP_001350804.1:p.Arg339Gly
NM_001377959.1:c.1018A>G NP_001364888.1:p.Arg340Gly
NM_014946.4:c.1114A>G MANE Select NP_055761.2:p.Arg372Gly
NM_199436.2:c.1018A>G NP_955468.1:p.Arg340Gly