Canonical Allele Identifier: CA283631248
Gene: ATXN1L HGNC NCBI
IST1 HGNC NCBI
ClinVar RCV:
RCV004421129
ClinVar Variation:
3132201
dbSNP:
370440155
gnomAD v2:
16:71884997 G / C
gnomAD v3:
16:71851094 G / C
gnomAD v4:
chr16-71851094-G-C
Joint Max Group AF 0.00043665 (AFR)
Genomes Max Group AF 0.0004589 (AFR)
Exomes Max Group AF 0.00029248 (AFR)
MyVariant.info:
GRCh38 chr16:g.71851094G>C
GRCh37 chr16:g.71884997G>C
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.71851094G>C , CM000678.2:g.71851094G>C GRCh38
NC_000016.9:g.71884997G>C , CM000678.1:g.71884997G>C GRCh37
NC_000016.8:g.70442498G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000683775.1:c.1354G>C (ATXN1L) ENSP00000507897.1:p.Asp452His
ENST00000427980.7:c.1354G>C (ATXN1L) MANE Select ENSP00000415822.2:p.Asp452His
ENST00000427980.6:c.1354G>C (ATXN1L) ENSP00000415822.2:p.Asp452His
ENST00000568581.5:c.-16+3023G>C (IST1) ENSP00000456200.1:n.-16+3023G>C
ENST00000569119.1:n.119+3023G>C (ATXN1L)
NM_001137675.3:c.1354G>C (ATXN1L) NP_001131147.1:p.Asp452His
NM_001137675.4:c.1354G>C (ATXN1L) MANE Select NP_001131147.1:p.Asp452His
Search 100 bp 5'
Search 100 bp 3'