Canonical Allele Identifier: CA283630729
Gene: ATXN1L HGNC NCBI
IST1 HGNC NCBI
ClinVar RCV:
RCV004197277
ClinVar Variation:
2353899
dbSNP:
1053958402
gnomAD v2:
16:71884382 C / A
gnomAD v3:
16:71850479 C / A
gnomAD v4:
chr16-71850479-C-A
Joint Max Group AF 0.00006387 (AMR)
Exomes Max Group AF 0.00007314 (AMR)
MyVariant.info:
GRCh38 chr16:g.71850479C>A
GRCh37 chr16:g.71884382C>A
Revel Score:
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.71850479C>A , CM000678.2:g.71850479C>A GRCh38
NC_000016.9:g.71884382C>A , CM000678.1:g.71884382C>A GRCh37
NC_000016.8:g.70441883C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000683775.1:c.739C>A (ATXN1L) ENSP00000507897.1:p.Pro247Thr
ENST00000427980.7:c.739C>A (ATXN1L) MANE Select ENSP00000415822.2:p.Pro247Thr
ENST00000427980.6:c.739C>A (ATXN1L) ENSP00000415822.2:p.Pro247Thr
ENST00000568581.5:c.-16+2408C>A (IST1) ENSP00000456200.1:n.-16+2408C>A
ENST00000569119.1:n.119+2408C>A (ATXN1L)
NM_001137675.3:c.739C>A (ATXN1L) NP_001131147.1:p.Pro247Thr
NM_001137675.4:c.739C>A (ATXN1L) MANE Select NP_001131147.1:p.Pro247Thr
Search 100 bp 5'
Search 100 bp 3'