Canonical Allele Identifier: CA49415389
Gene: PPP3R1 HGNC NCBI

Linked Data

dbSNP Id: rs78810546
gnomAD v2: 2-68445334-A-C
gnomAD v3: 2-68218202-A-C
gnomAD v4: 2-68218202-A-C
MyVariant Identifiers: chr2:g.68445334A>C (hg19) chr2:g.68218202A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68218202A>C , CM000664.2:g.68218202A>C GRCh38
NC_000002.11:g.68445334A>C , CM000664.1:g.68445334A>C GRCh37
NC_000002.10:g.68298838A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000234310.8:c.4-1071T>G MANE Select ENSP00000234310.3:n.4-1071T>G
ENST00000234310.7:c.4-1071T>G ENSP00000234310.3:n.4-1071T>G
ENST00000406334.3:c.-27-1071T>G ENSP00000384974.3:n.-27-1071T>G
ENST00000409377.1:c.-27-1071T>G ENSP00000387148.1:n.-27-1071T>G
ENST00000409752.5:c.61-1071T>G ENSP00000387216.1:n.61-1071T>G
NM_000945.3:c.4-1071T>G NP_000936.1:n.4-1071T>G
NM_000945.4:c.4-1071T>G MANE Select NP_000936.1:n.4-1071T>G
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