Canonical Allele Identifier: CA7982162
Gene: NUPR1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.28538032C>T
GRCh37 chr16:g.28549353C>T
Revel Score:
ENST00000324873 (MANE Select) 0.199
ENST00000395641 0.199
gnomAD v2:
16:28549353 C / T
gnomAD v3:
16:28538032 C / T
gnomAD v4:
chr16-28538032-C-T
Joint Max Group AF 0.0000103 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00000731 (NFE)
ClinVar RCV:
RCV004173596
ClinVar Variation:
2335868
dbSNP:
752885944
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28538032C>T , CM000678.2:g.28538032C>T GRCh38
NC_000016.9:g.28549353C>T , CM000678.1:g.28549353C>T GRCh37
NC_000016.8:g.28456854C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000324873.8:c.236G>A MANE Select ENSP00000315559.7:p.Gly79Glu
ENST00000679262.1:c.*371G>A ENSP00000502863.1:n.*371G>A
ENST00000324873.7:c.236G>A ENSP00000315559.6:p.Gly79Glu
ENST00000395641.2:c.290G>A ENSP00000379003.2:p.Gly97Glu
ENST00000567646.1:c.*233G>A ENSP00000456597.1:n.*233G>A
NM_001042483.1:c.290G>A NP_001035948.1:p.Gly97Glu
NM_012385.2:c.236G>A NP_036517.1:p.Gly79Glu
NM_001042483.2:c.290G>A NP_001035948.1:p.Gly97Glu
NM_012385.3:c.236G>A MANE Select NP_036517.1:p.Gly79Glu
Search 100 bp 5'
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