Canonical Allele Identifier: CA22044314
Gene: CMPK1 HGNC NCBI
LINC01389 HGNC NCBI

Linked Data

dbSNP Id: rs1033808799
gnomAD v3: 1-47388766-A-C
gnomAD v4: 1-47388766-A-C
MyVariant Identifiers: chr1:g.47854438A>C (hg19) chr1:g.47388766A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.47388766A>C , CM000663.2:g.47388766A>C GRCh38
NC_000001.10:g.47854438A>C , CM000663.1:g.47854438A>C GRCh37
NC_000001.9:g.47627025A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000699074.1:c.550-5515A>C (CMPK1) ENSP00000514113.1:n.550-5515A>C
NR_126355.1:n.405-2410T>G (LINC01389)
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