Canonical Allele Identifier: CA522629141
Gene: CMPK1 HGNC NCBI
LINC01389 HGNC NCBI

Linked Data

dbSNP Id: rs1349773294
gnomAD v2: 1-47854516-G-A
gnomAD v3: 1-47388844-G-A
gnomAD v4: 1-47388844-G-A
MyVariant Identifiers: chr1:g.47854516G>A (hg19) chr1:g.47388844G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.47388844G>A , CM000663.2:g.47388844G>A GRCh38
NC_000001.10:g.47854516G>A , CM000663.1:g.47854516G>A GRCh37
NC_000001.9:g.47627103G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000699074.1:c.550-5437G>A (CMPK1) ENSP00000514113.1:n.550-5437G>A
NR_126355.1:n.405-2488C>T (LINC01389)
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