Canonical Allele Identifier: CA15696069
Gene: ZPR1 HGNC NCBI
gnomAD v2:
11:116647607 C / T
gnomAD v3:
11:116776891 C / T
gnomAD v4:
chr11-116776891-C-T
Joint Max Group AF 0.93393613 (AFR)
Genomes Max Group AF 0.93393613 (AFR)
Exomes Max Group AF 0.60456626 (NFE)
dbSNP:
2160669
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116776891C>T , CM000673.2:g.116776891C>T GRCh38
NC_000011.9:g.116647607C>T , CM000673.1:g.116647607C>T GRCh37
NC_000011.8:g.116152817C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000227322.8:c.*2034G>A MANE Select ENSP00000227322.3:n.*2034G>A
ENST00000227322.7:c.*2034G>A ENSP00000227322.3:n.*2034G>A
NM_003904.5:c.*2034G>A MANE Select NP_003895.1:n.*2034G>A
NM_001317086.2:c.*2034G>A NP_001304015.1:n.*2034G>A
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