Canonical Allele Identifier: CA425626923
Gene: SPAST HGNC NCBI

Linked Data

gnomAD v4: 2-32064143-C-G
MyVariant Identifiers: chr2:g.32289212C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32064143C>G , CM000664.2:g.32064143C>G GRCh38
NC_000002.11:g.32289212C>G , CM000664.1:g.32289212C>G GRCh37
NC_000002.10:g.32142716C>G NCBI36
NG_008730.1:g.5533C>G , LRG_714:g.5533C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.312C>G ENSP00000515816.1:p.Ala104=
ENST00000315285.9:c.312C>G MANE Select ENSP00000320885.3:p.Ala104=
ENST00000621856.2:c.312C>G ENSP00000482496.2:p.Ala104=
ENST00000642281.1:c.196C>G
ENST00000642455.1:c.312C>G ENSP00000493827.1:p.Ala104=
ENST00000642751.1:c.182C>G
ENST00000642999.1:c.54C>G ENSP00000496589.1:p.Ala18=
ENST00000644408.1:c.188C>G
ENST00000644954.1:c.54C>G ENSP00000494312.1:p.Ala18=
ENST00000645400.1:c.153C>G ENSP00000496306.1:p.Ala51=
ENST00000646082.1:c.146C>G
ENST00000646571.1:c.312C>G ENSP00000495015.1:p.Ala104=
ENST00000315285.7:c.312C>G ENSP00000320885.3:p.Ala104=
ENST00000345662.5:c.312C>G ENSP00000340817.1:p.Ala104=
ENST00000615843.4:c.312C>G ENSP00000480893.1:p.Ala104=
ENST00000621856.1:c.54C>G ENSP00000482496.1:p.Ala18=
NM_014946.3:c.312C>G , LRG_714t1:c.312C>G NP_055761.2:p.Ala104=
NM_199436.1:c.312C>G NP_955468.1:p.Ala104=
XM_005264516.3:c.312C>G XP_005264573.1:p.Ala104=
XM_011533067.1:c.312C>G XP_011531369.1:p.Ala104=
NM_001363823.1:c.312C>G NP_001350752.1:p.Ala104=
NM_001363875.1:c.312C>G NP_001350804.1:p.Ala104=
XM_005264516.5:c.312C>G XP_005264573.1:p.Ala104=
XM_011533067.2:c.312C>G XP_011531369.1:p.Ala104=
XM_017004778.2:c.312C>G XP_016860267.1:p.Ala104=
NM_001363823.2:c.312C>G NP_001350752.1:p.Ala104=
NM_001363875.2:c.312C>G NP_001350804.1:p.Ala104=
NM_001377959.1:c.312C>G NP_001364888.1:p.Ala104=
NM_014946.4:c.312C>G MANE Select NP_055761.2:p.Ala104=
NM_199436.2:c.312C>G NP_955468.1:p.Ala104=