Canonical Allele Identifier: CA229326274
Gene: ZPR1 HGNC NCBI

Linked Data

dbSNP Id: rs575653024
gnomAD v2: 11-116649278-C-G
gnomAD v3: 11-116778562-C-G
gnomAD v4: 11-116778562-C-G
MyVariant Identifiers: chr11:g.116649278C>G (hg19) chr11:g.116778562C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116778562C>G , CM000673.2:g.116778562C>G GRCh38
NC_000011.9:g.116649278C>G , CM000673.1:g.116649278C>G GRCh37
NC_000011.8:g.116154488C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000227322.8:c.*363G>C MANE Select ENSP00000227322.3:n.*363G>C
ENST00000227322.7:c.*363G>C ENSP00000227322.3:n.*363G>C
ENST00000429220.5:c.1522G>C
ENST00000444935.5:c.1655G>C
NM_003904.3:c.*363G>C NP_003895.1:n.*363G>C
NM_001317086.1:c.*363G>C NP_001304015.1:n.*363G>C
NM_003904.4:c.*363G>C NP_003895.1:n.*363G>C
XR_001748023.2:n.3071G>C
NM_003904.5:c.*363G>C MANE Select NP_003895.1:n.*363G>C
NM_001317086.2:c.*363G>C NP_001304015.1:n.*363G>C
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