Canonical Allele Identifier: CA283630466
Gene: ATXN1L HGNC NCBI
IST1 HGNC NCBI
ClinVar RCV:
RCV004228599
ClinVar Variation:
2395936
dbSNP:
373587350
gnomAD v2:
16:71883969 C / A
gnomAD v3:
16:71850066 C / A
gnomAD v4:
chr16-71850066-C-A
Joint Max Group AF 0.00040091 (AFR)
Genomes Max Group AF 0.00033795 (AFR)
Exomes Max Group AF 0.00036807 (AFR)
MyVariant.info:
GRCh38 chr16:g.71850066C>A
GRCh37 chr16:g.71883969C>A
Revel Score:
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.71850066C>A , CM000678.2:g.71850066C>A GRCh38
NC_000016.9:g.71883969C>A , CM000678.1:g.71883969C>A GRCh37
NC_000016.8:g.70441470C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000683775.1:c.326C>A (ATXN1L) ENSP00000507897.1:p.Thr109Lys
ENST00000427980.7:c.326C>A (ATXN1L) MANE Select ENSP00000415822.2:p.Thr109Lys
ENST00000427980.6:c.326C>A (ATXN1L) ENSP00000415822.2:p.Thr109Lys
ENST00000568581.5:c.-16+1995C>A (IST1) ENSP00000456200.1:n.-16+1995C>A
ENST00000569119.1:n.119+1995C>A (ATXN1L)
NM_001137675.3:c.326C>A (ATXN1L) NP_001131147.1:p.Thr109Lys
NM_001137675.4:c.326C>A (ATXN1L) MANE Select NP_001131147.1:p.Thr109Lys
Search 100 bp 5'
Search 100 bp 3'