Canonical Allele Identifier: CA2580645091
Gene: PCK1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57564815C>A , CM000682.2:g.57564815C>A GRCh38
NC_000020.10:g.56139871C>A , CM000682.1:g.56139871C>A GRCh37
NC_000020.9:g.55573277C>A NCBI36
NG_008205.1:g.8735C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000319441.6:c.1318+202C>A MANE Select ENSP00000319814.4:n.1318+202C>A
ENST00000319441.5:c.1318+202C>A ENSP00000319814.4:n.1318+202C>A
ENST00000467047.1:n.3736C>A
ENST00000485958.1:n.442+202C>A
NM_002591.3:c.1318+202C>A NP_002582.3:n.1318+202C>A
XM_011528839.1:c.922+202C>A XP_011527141.1:n.922+202C>A
XM_024451888.1:c.922+202C>A XP_024307656.1:n.922+202C>A
NM_002591.4:c.1318+202C>A MANE Select NP_002582.3:n.1318+202C>A
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