ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000188 (NFE)
Exomes Max Group AF
0.000002 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71850399T>C , CM000678.2:g.71850399T>C | GRCh38 |
| NC_000016.9:g.71884302T>C , CM000678.1:g.71884302T>C | GRCh37 |
| NC_000016.8:g.70441803T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683775.1:c.659T>C (ATXN1L) | ENSP00000507897.1:p.Leu220Pro | |
| ENST00000427980.7:c.659T>C (ATXN1L) MANE Select | ENSP00000415822.2:p.Leu220Pro | |
| ENST00000427980.6:c.659T>C (ATXN1L) | ENSP00000415822.2:p.Leu220Pro | |
| ENST00000568581.5:c.-16+2328T>C (IST1) | ENSP00000456200.1:n.-16+2328T>C | |
| ENST00000569119.1:n.119+2328T>C (ATXN1L) | ||
| NM_001137675.3:c.659T>C (ATXN1L) | NP_001131147.1:p.Leu220Pro | |
| NM_001137675.4:c.659T>C (ATXN1L) MANE Select | NP_001131147.1:p.Leu220Pro |