Canonical Allele Identifier: CA425581444
Gene: SPAST HGNC NCBI

Linked Data

gnomAD v4: 2-32089592-C-A
MyVariant Identifiers: chr2:g.32314661C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32089592C>A , CM000664.2:g.32089592C>A GRCh38
NC_000002.11:g.32314661C>A , CM000664.1:g.32314661C>A GRCh37
NC_000002.10:g.32168165C>A NCBI36
NG_008730.1:g.30982C>A , LRG_714:g.30982C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.*233C>A ENSP00000515816.1:n.*233C>A
ENST00000315285.9:c.573C>A MANE Select ENSP00000320885.3:p.Arg191=
ENST00000621856.2:c.570C>A ENSP00000482496.2:p.Arg190=
ENST00000642281.1:c.457C>A
ENST00000642455.1:c.570C>A ENSP00000493827.1:p.Arg190=
ENST00000642751.1:c.443C>A
ENST00000642999.1:c.315C>A ENSP00000496589.1:p.Arg105=
ENST00000643334.1:c.158C>A
ENST00000644408.1:c.449C>A
ENST00000644954.1:c.315C>A ENSP00000494312.1:p.Arg105=
ENST00000645400.1:c.529C>A ENSP00000496306.1:n.529C>A
ENST00000645671.1:c.37-9204C>A
ENST00000646082.1:c.407C>A
ENST00000646571.1:c.573C>A ENSP00000495015.1:p.Arg191=
ENST00000647007.1:n.270C>A
ENST00000647133.1:c.148C>A
ENST00000315285.7:c.573C>A ENSP00000320885.3:p.Arg191=
ENST00000345662.5:c.573C>A ENSP00000340817.1:p.Arg191=
ENST00000615843.4:c.573C>A ENSP00000480893.1:p.Arg191=
ENST00000621856.1:c.315C>A ENSP00000482496.1:p.Arg105=
NM_014946.3:c.573C>A , LRG_714t1:c.573C>A NP_055761.2:p.Arg191=
NM_199436.1:c.573C>A NP_955468.1:p.Arg191=
XM_005264516.3:c.570C>A XP_005264573.1:p.Arg190=
XM_011533067.1:c.573C>A XP_011531369.1:p.Arg191=
NM_001363823.1:c.570C>A NP_001350752.1:p.Arg190=
NM_001363875.1:c.570C>A NP_001350804.1:p.Arg190=
XM_005264516.5:c.570C>A XP_005264573.1:p.Arg190=
XM_011533067.2:c.573C>A XP_011531369.1:p.Arg191=
XM_017004778.2:c.573C>A XP_016860267.1:p.Arg191=
NM_001363823.2:c.570C>A NP_001350752.1:p.Arg190=
NM_001363875.2:c.570C>A NP_001350804.1:p.Arg190=
NM_001377959.1:c.573C>A NP_001364888.1:p.Arg191=
NM_014946.4:c.573C>A MANE Select NP_055761.2:p.Arg191=
NM_199436.2:c.573C>A NP_955468.1:p.Arg191=