Canonical Allele Identifier: CA283631660
Gene: ATXN1L HGNC NCBI
IST1 HGNC NCBI
ClinVar RCV:
RCV004125852
ClinVar Variation:
2271144
dbSNP:
1044942720
gnomAD v2:
16:71885648 C / T
gnomAD v3:
16:71851745 C / T
gnomAD v4:
chr16-71851745-C-T
Joint Max Group AF 0.00003684 (AFR)
Genomes Max Group AF 0.00004739 (AFR)
Exomes Max Group AF 0.00000954 (EAS)
MyVariant.info:
GRCh38 chr16:g.71851745C>T
GRCh37 chr16:g.71885648C>T
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.71851745C>T , CM000678.2:g.71851745C>T GRCh38
NC_000016.9:g.71885648C>T , CM000678.1:g.71885648C>T GRCh37
NC_000016.8:g.70443149C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000683775.1:c.2005C>T (ATXN1L) ENSP00000507897.1:p.Arg669Cys
ENST00000427980.7:c.2005C>T (ATXN1L) MANE Select ENSP00000415822.2:p.Arg669Cys
ENST00000427980.6:c.2005C>T (ATXN1L) ENSP00000415822.2:p.Arg669Cys
ENST00000568581.5:c.-16+3674C>T (IST1) ENSP00000456200.1:n.-16+3674C>T
ENST00000569119.1:n.119+3674C>T (ATXN1L)
NM_001137675.3:c.2005C>T (ATXN1L) NP_001131147.1:p.Arg669Cys
NM_001137675.4:c.2005C>T (ATXN1L) MANE Select NP_001131147.1:p.Arg669Cys
Search 100 bp 5'
Search 100 bp 3'